This document discusses human genetics and sexual development. It covers several topics:
1. Genetic, gonadal, and phenotypic sex are determined by sex chromosomes, presence of SRY gene on Y chromosome, and hormone levels.
2. Sex is genetically determined by X and Y chromosomes. The Y chromosome contains the SRY gene which initiates testis formation.
3. Hormones like testosterone and MIS then direct the development of either male or female external genitalia and the regression of duct systems not needed for that sex.
This document discusses sex determination and differentiation. It begins by explaining that sex is determined by X and Y chromosomes, with females having two X chromosomes and males having one X and one Y chromosome. It then describes the process of sex differentiation in males and females both internally and externally. It discusses factors involved like Müllerian inhibiting substance and testosterone. It outlines several sex chromosomal abnormalities including Turner syndrome, Klinefelter syndrome, and various types of pseudohermaphroditism. The document aims to explain the physiology of sex determination and differentiation and its abnormalities.
THE PUZZLE OF X CHROMOSOME "alice test" حسين الخافوري
Females have two X chromosomes and males have one, so it was initially thought that females would produce double the amount of proteins encoded by the X chromosome compared to males. However, measurements show that females and males produce equal amounts. This is due to a process called dosage compensation that equalizes X chromosome gene expression between the sexes. In females, one of the two X chromosomes is randomly inactivated in each cell early in development, forming a Barr body. This inactivation is permanent and ensures that only one X chromosome remains active in females, matching males who have only one X chromosome.
X chromosome inactivation is an epigenetic process that balances gene expression between males and females. In females, one of the two X chromosomes is randomly inactivated in each cell early in development. This results in a mosaic of cells where some express genes from the maternal X chromosome and others from the paternal. A gene called XIST controls this process. X inactivation equalizes gene expression between males and females but can sometimes cause phenotypic effects if an X-linked recessive trait is expressed if the normal allele is inactive.
The document discusses karyotypes and chromosomes. It defines a karyotype as the chromosome complement of an organism and shows the number, size, and shape of chromosomes. It provides examples of chromosome numbers in various species. It also summarizes techniques like karyotyping, amniocentesis, and chorionic villus sampling that are used to analyze chromosomes. Sex linkage and examples of sex-linked conditions like color blindness and hemophilia are also covered.
Sex determination in plants involves heterogametic and homogametic sex chromosomes. In some plants like Melandrium, females are heterogametic (ZW) while males are homogametic (ZZ). The sex of offspring depends on the type of sperm fertilizing the egg. In other plants like Vallisneria, males are heterogametic (XY) while females are homogametic (XX). Females produce two types of eggs while males produce two types of sperm, determining sex. Sex determination can also be genetically controlled by single genes or environmentally influenced in some species like alligators.
This document summarizes heredity and variation. It discusses genes and chromosomes, which carry genetic information from parents to offspring. It describes two types of cell division: mitosis, which produces identical body cells, and meiosis, which produces gametes with half the number of chromosomes. Meiosis allows for genetic variation between offspring. The document also covers sex determination, dominant and recessive traits, and mutations that can cause genetic disorders like Down syndrome, hemophilia, and albinism.
This document discusses sexual differentiation in humans. It begins by defining genetic males and females based on their chromosomes and gonads. It then describes how the presence of the SRY gene on the Y chromosome leads to testis development, while its absence leads to ovary development. The role of testosterone and Mullerian Inhibiting Substance in driving the development of male internal and external genitalia is also described. Finally, examples of abnormal sexual differentiation caused by chromosomal abnormalities or hormonal defects are provided.
The document discusses key concepts in human genetics. It defines several genetic terms like heredity, allele frequency, mutation, gene pool, and genetic drift. It also outlines common patterns of inheritance including autosomal dominant, autosomal recessive, sex-linked dominant, sex-linked recessive, and sex-influenced traits. Examples are given for each pattern. The document also describes common chromosome anomalies like polyploidy, aneuploidy, and structural abnormalities. Specific conditions resulting from genetic disorders are discussed like cystic fibrosis, sickle cell anemia, and phenylketonuria. Behavioral disorders with a genetic basis like schizophrenia and drug addiction are also summarized.
This document discusses sex determination and differentiation. It begins by explaining that sex is determined by X and Y chromosomes, with females having two X chromosomes and males having one X and one Y chromosome. It then describes the process of sex differentiation in males and females both internally and externally. It discusses factors involved like Müllerian inhibiting substance and testosterone. It outlines several sex chromosomal abnormalities including Turner syndrome, Klinefelter syndrome, and various types of pseudohermaphroditism. The document aims to explain the physiology of sex determination and differentiation and its abnormalities.
THE PUZZLE OF X CHROMOSOME "alice test" حسين الخافوري
Females have two X chromosomes and males have one, so it was initially thought that females would produce double the amount of proteins encoded by the X chromosome compared to males. However, measurements show that females and males produce equal amounts. This is due to a process called dosage compensation that equalizes X chromosome gene expression between the sexes. In females, one of the two X chromosomes is randomly inactivated in each cell early in development, forming a Barr body. This inactivation is permanent and ensures that only one X chromosome remains active in females, matching males who have only one X chromosome.
X chromosome inactivation is an epigenetic process that balances gene expression between males and females. In females, one of the two X chromosomes is randomly inactivated in each cell early in development. This results in a mosaic of cells where some express genes from the maternal X chromosome and others from the paternal. A gene called XIST controls this process. X inactivation equalizes gene expression between males and females but can sometimes cause phenotypic effects if an X-linked recessive trait is expressed if the normal allele is inactive.
The document discusses karyotypes and chromosomes. It defines a karyotype as the chromosome complement of an organism and shows the number, size, and shape of chromosomes. It provides examples of chromosome numbers in various species. It also summarizes techniques like karyotyping, amniocentesis, and chorionic villus sampling that are used to analyze chromosomes. Sex linkage and examples of sex-linked conditions like color blindness and hemophilia are also covered.
Sex determination in plants involves heterogametic and homogametic sex chromosomes. In some plants like Melandrium, females are heterogametic (ZW) while males are homogametic (ZZ). The sex of offspring depends on the type of sperm fertilizing the egg. In other plants like Vallisneria, males are heterogametic (XY) while females are homogametic (XX). Females produce two types of eggs while males produce two types of sperm, determining sex. Sex determination can also be genetically controlled by single genes or environmentally influenced in some species like alligators.
This document summarizes heredity and variation. It discusses genes and chromosomes, which carry genetic information from parents to offspring. It describes two types of cell division: mitosis, which produces identical body cells, and meiosis, which produces gametes with half the number of chromosomes. Meiosis allows for genetic variation between offspring. The document also covers sex determination, dominant and recessive traits, and mutations that can cause genetic disorders like Down syndrome, hemophilia, and albinism.
This document discusses sexual differentiation in humans. It begins by defining genetic males and females based on their chromosomes and gonads. It then describes how the presence of the SRY gene on the Y chromosome leads to testis development, while its absence leads to ovary development. The role of testosterone and Mullerian Inhibiting Substance in driving the development of male internal and external genitalia is also described. Finally, examples of abnormal sexual differentiation caused by chromosomal abnormalities or hormonal defects are provided.
The document discusses key concepts in human genetics. It defines several genetic terms like heredity, allele frequency, mutation, gene pool, and genetic drift. It also outlines common patterns of inheritance including autosomal dominant, autosomal recessive, sex-linked dominant, sex-linked recessive, and sex-influenced traits. Examples are given for each pattern. The document also describes common chromosome anomalies like polyploidy, aneuploidy, and structural abnormalities. Specific conditions resulting from genetic disorders are discussed like cystic fibrosis, sickle cell anemia, and phenylketonuria. Behavioral disorders with a genetic basis like schizophrenia and drug addiction are also summarized.
Dr. Wiskott noted an inherited condition in a German family that affected three boys who died of the same illness involving bruising, eczema, bloody diarrhea, and infections. The boys died from bleeding in their digestive tracts and blood infections. Dr. Wiskott observed that the condition seemed to only affect boys in the family and was inherited in nature.
Sex-linked genes exhibit unique patterns of inheritance depending on the sex chromosome system of the species. In humans, females have two X chromosomes and males have one X and one Y chromosome. The Y chromosome contains the SRY gene which triggers male development. Females serve as the default sex since they only need one X chromosome to develop, while males require specific signaling to develop as males. Abnormal chromosome numbers, called aneuploidies, can cause conditions like Down syndrome, Klinefelter syndrome, and Turner syndrome. Chromosomal mutations such as deletions, inversions, duplications, and translocations can also cause genetic disorders and occur during meiosis. Genomic imprinting and mitochondrial DNA inheritance are exceptions to
The document provides an overview of human reproductive physiology, including:
- The primary reproductive organs are the gonads which produce gametes and sex hormones.
- Sex differentiation in the embryo is determined by sex chromosomes, with XX becoming ovaries and XY becoming testes.
- Gametogenesis involves mitosis and meiosis to produce gametes with half the normal number of chromosomes.
This presentation intends to explore the sex-linked characters along with some fatal diseases of human beings, their cause, consequences and other issues.
The document summarizes key aspects of sex chromosomes and their abnormalities:
1) X chromosome inactivation equalizes gene expression between males and females by silencing one X chromosome in females. Structural abnormalities on the X chromosome usually lead to inactivation of the abnormal X to minimize clinical impact.
2) The SRY gene on the Y chromosome determines testis development. Abnormalities in SRY or downstream genes can cause sex reversal.
3) Deletions of the Y chromosome are associated with spermatogenic failure and infertility in some men. The DAZ gene family may be important for sperm production.
4) Genes escaping X inactivation, particularly on Xp, can have greater effects
The document discusses normal sexual differentiation and disorders of sexual differentiation. It describes the process of normal sexual differentiation including chromosomal, gonadal, ductal, and genital differentiation. It also discusses several common disorders of sexual differentiation including congenital adrenal hyperplasia, androgen insensitivity syndrome, mixed gonadal dysgenesis, and others. Specific conditions discussed in more detail include Klinefelter syndrome, Turner syndrome, XX maleness, and mixed gonadal dysgenesis.
This document discusses chromosomal basis of inheritance. It explains that chromosomes occur in pairs in somatic cells and during gamete formation, homologous chromosomes separate so each gamete contains one chromosome from the pair. The chromosome theory proposed by Sutton and Boveri stated that gametes contain chromosomes that carry hereditary characters and union of gametes restores the diploid number. The rest of the document discusses chromosomes in more detail including their structure, types, sex chromosomes, and mechanisms of sex determination in different organisms.
Sexual reproduction in most eukaryotes involves meiosis producing haploid gametes that fuse during fertilization. In higher organisms, sexual differentiation results in phenotypic differences between males and females. The roundworm C. elegans has two sexual phenotypes - males with testes only and hermaphrodites with both testes and ovaries that self-fertilize. In mammals, the Y chromosome contains the SRY gene that determines maleness by directing testes development, which then suppresses female development through testosterone and MIS. Dosage compensation in females involves X chromosome inactivation to equalize X-linked gene expression between sexes.
This document provides information about sex-linked inheritance. It begins by defining sex-linked inheritance as traits influenced by genes on the sex chromosomes, particularly the X chromosome. Examples of sex-linked traits and disorders like hemophilia and color blindness are given. The document then explains how sex is determined by the presence of X and Y chromosomes and how this relates to passing sex-linked genes from parents to children. Patterns of sex-linked inheritance for both males and females are described.
This document discusses various chromosomal abnormalities and genetic syndromes. It notes that 50% of spontaneous abortions are due to chromosomal abnormalities such as triploidy, Turner syndrome, and trisomy 16. It then describes several specific genetic syndromes including Klinefelter syndrome, Turner syndrome, Jacob's syndrome, triple X syndrome, and deletions or deficiencies of chromosomes 5, 15, and 22 associated with conditions like Cri-du-chat syndrome and Prader-Willi syndrome. The document concludes by discussing the goals of the Human Genome Project to better understand genetic variations and promote inclusion of those with differences.
This document discusses chromosomal abnormalities, including common abnormalities seen in children. It describes the normal human karyotype of 46 chromosomes consisting of 22 pairs of autosomes and one pair of sex chromosomes. It then discusses specific abnormalities including trisomy 21 (Down syndrome), trisomy 18, Turner syndrome, Klinefelter syndrome, and structural abnormalities involving deletions or duplications of chromosomal segments. For each condition, it provides the genetic basis and characteristic clinical features as well as treatment approaches when available.
This document discusses heredity, prenatal development, and birth from an evolutionary and genetic perspective. It covers key topics such as genes and chromosomes, mitosis and meiosis, dominant and recessive traits, genetic disorders, chromosomal abnormalities, twins, genetic counseling, and the three periods of prenatal development (germinal, embryonic, fetal). The germinal period involves fertilization and the early cell divisions leading to a blastocyst.
The document discusses the stages of human development from fertilization through birth. It describes how a zygote is formed through the joining of an egg and sperm, and the early embryonic development of major organs over the first 8 weeks. The fetal stage from 8 weeks until birth is a period of rapid growth and differentiation, with the fetus increasing 20 times in length and developing functioning organs. The document also notes some potential problems in pregnancy like infertility, miscarriage, abortion, and threats to development from environmental factors and a mother's health behaviors during pregnancy.
The document discusses several key topics related to human genetics and genomics:
1. It provides an overview of human chromosomes, sex determination, patterns of inheritance like dominance and codominance, and chromosomal disorders.
2. It describes several human genetic disorders like sickle cell anemia, cystic fibrosis, and Huntington's disease, explaining how mutations cause these conditions.
3. It discusses techniques used to study the human genome like DNA manipulation, restriction enzymes, gel electrophoresis, and DNA sequencing.
4. It outlines the goals and findings of the Human Genome Project, including the development of bioinformatics to analyze genomic data.
The document discusses human development from conception through birth. It covers the stages of prenatal development including germinal (conception to implantation), embryonic (implantation to 8 weeks), and fetal (9 weeks to birth). Key topics include genes and DNA, meiosis and mitosis, influences of heredity and environment, risks of infertility, drugs/stress, and the stages of childbirth.
Genes affect every aspect of human development and traits are passed from parents to children. While genes play a major role, environmental factors also influence phenotypes. Genetic counseling can help individuals understand risks of passing on genetic conditions and make informed reproductive decisions. Chromosomal abnormalities can cause developmental issues, but understanding their origins helps reduce stigma.
Sexual differentiation is a complex process involving genetic and hormonal factors that begins with undifferentiated gonads in early fetal development. The presence of the SRY gene on the Y chromosome leads to testis formation while its absence leads to ovary formation. Testes secrete testosterone and MIF which masculinize the internal and external genitalia. In the absence of these, the Mullerian ducts form female internal structures and external genitalia develop along female lines. Disorders of sexual development can occur due to genetic abnormalities, hormonal imbalances, or defects in hormone action or metabolism.
Sex is determined by chromosomal, gonadal, and phenotypic factors. Chromosomal sex is determined at fertilization by the presence of either two X chromosomes (female) or one X and one Y chromosome (male). Between 6-8 weeks of gestation, the undifferentiated gonads will develop into either ovaries or testes depending on the presence of the SRY gene on the Y chromosome. The development of testes or ovaries then leads to further anatomical changes through the secretion of hormones and regression or development of duct systems that result in either male or female phenotypic characteristics. Disorders of sex development can occur when there is a discrepancy between these factors.
This document summarizes key concepts about genes, chromosomes, DNA, and genetic inheritance. It discusses how genes are found on chromosomes and contain DNA, and how parents pass genes to offspring through sex cells like egg and sperm cells. The document also covers genetic disorders like cystic fibrosis and Huntington's disease, explaining how different genetic conditions can be dominant or recessive based on whether one or two copies of an allele are required to exhibit traits. Environmental factors that can influence traits are also mentioned.
This particular slides consist of- what is hypotension,what are it's causes and it's effect on body, risk factors, symptoms,complications, diagnosis and role of physiotherapy in it.
This slide is very helpful for physiotherapy students and also for other medical and healthcare students.
Here is the summary of hypotension:
Hypotension, or low blood pressure, is when the pressure of blood circulating in the body is lower than normal or expected. It's only a problem if it negatively impacts the body and causes symptoms. Normal blood pressure is usually between 90/60 mmHg and 120/80 mmHg, but pressures below 90/60 are generally considered hypotensive.
Dr. Wiskott noted an inherited condition in a German family that affected three boys who died of the same illness involving bruising, eczema, bloody diarrhea, and infections. The boys died from bleeding in their digestive tracts and blood infections. Dr. Wiskott observed that the condition seemed to only affect boys in the family and was inherited in nature.
Sex-linked genes exhibit unique patterns of inheritance depending on the sex chromosome system of the species. In humans, females have two X chromosomes and males have one X and one Y chromosome. The Y chromosome contains the SRY gene which triggers male development. Females serve as the default sex since they only need one X chromosome to develop, while males require specific signaling to develop as males. Abnormal chromosome numbers, called aneuploidies, can cause conditions like Down syndrome, Klinefelter syndrome, and Turner syndrome. Chromosomal mutations such as deletions, inversions, duplications, and translocations can also cause genetic disorders and occur during meiosis. Genomic imprinting and mitochondrial DNA inheritance are exceptions to
The document provides an overview of human reproductive physiology, including:
- The primary reproductive organs are the gonads which produce gametes and sex hormones.
- Sex differentiation in the embryo is determined by sex chromosomes, with XX becoming ovaries and XY becoming testes.
- Gametogenesis involves mitosis and meiosis to produce gametes with half the normal number of chromosomes.
This presentation intends to explore the sex-linked characters along with some fatal diseases of human beings, their cause, consequences and other issues.
The document summarizes key aspects of sex chromosomes and their abnormalities:
1) X chromosome inactivation equalizes gene expression between males and females by silencing one X chromosome in females. Structural abnormalities on the X chromosome usually lead to inactivation of the abnormal X to minimize clinical impact.
2) The SRY gene on the Y chromosome determines testis development. Abnormalities in SRY or downstream genes can cause sex reversal.
3) Deletions of the Y chromosome are associated with spermatogenic failure and infertility in some men. The DAZ gene family may be important for sperm production.
4) Genes escaping X inactivation, particularly on Xp, can have greater effects
The document discusses normal sexual differentiation and disorders of sexual differentiation. It describes the process of normal sexual differentiation including chromosomal, gonadal, ductal, and genital differentiation. It also discusses several common disorders of sexual differentiation including congenital adrenal hyperplasia, androgen insensitivity syndrome, mixed gonadal dysgenesis, and others. Specific conditions discussed in more detail include Klinefelter syndrome, Turner syndrome, XX maleness, and mixed gonadal dysgenesis.
This document discusses chromosomal basis of inheritance. It explains that chromosomes occur in pairs in somatic cells and during gamete formation, homologous chromosomes separate so each gamete contains one chromosome from the pair. The chromosome theory proposed by Sutton and Boveri stated that gametes contain chromosomes that carry hereditary characters and union of gametes restores the diploid number. The rest of the document discusses chromosomes in more detail including their structure, types, sex chromosomes, and mechanisms of sex determination in different organisms.
Sexual reproduction in most eukaryotes involves meiosis producing haploid gametes that fuse during fertilization. In higher organisms, sexual differentiation results in phenotypic differences between males and females. The roundworm C. elegans has two sexual phenotypes - males with testes only and hermaphrodites with both testes and ovaries that self-fertilize. In mammals, the Y chromosome contains the SRY gene that determines maleness by directing testes development, which then suppresses female development through testosterone and MIS. Dosage compensation in females involves X chromosome inactivation to equalize X-linked gene expression between sexes.
This document provides information about sex-linked inheritance. It begins by defining sex-linked inheritance as traits influenced by genes on the sex chromosomes, particularly the X chromosome. Examples of sex-linked traits and disorders like hemophilia and color blindness are given. The document then explains how sex is determined by the presence of X and Y chromosomes and how this relates to passing sex-linked genes from parents to children. Patterns of sex-linked inheritance for both males and females are described.
This document discusses various chromosomal abnormalities and genetic syndromes. It notes that 50% of spontaneous abortions are due to chromosomal abnormalities such as triploidy, Turner syndrome, and trisomy 16. It then describes several specific genetic syndromes including Klinefelter syndrome, Turner syndrome, Jacob's syndrome, triple X syndrome, and deletions or deficiencies of chromosomes 5, 15, and 22 associated with conditions like Cri-du-chat syndrome and Prader-Willi syndrome. The document concludes by discussing the goals of the Human Genome Project to better understand genetic variations and promote inclusion of those with differences.
This document discusses chromosomal abnormalities, including common abnormalities seen in children. It describes the normal human karyotype of 46 chromosomes consisting of 22 pairs of autosomes and one pair of sex chromosomes. It then discusses specific abnormalities including trisomy 21 (Down syndrome), trisomy 18, Turner syndrome, Klinefelter syndrome, and structural abnormalities involving deletions or duplications of chromosomal segments. For each condition, it provides the genetic basis and characteristic clinical features as well as treatment approaches when available.
This document discusses heredity, prenatal development, and birth from an evolutionary and genetic perspective. It covers key topics such as genes and chromosomes, mitosis and meiosis, dominant and recessive traits, genetic disorders, chromosomal abnormalities, twins, genetic counseling, and the three periods of prenatal development (germinal, embryonic, fetal). The germinal period involves fertilization and the early cell divisions leading to a blastocyst.
The document discusses the stages of human development from fertilization through birth. It describes how a zygote is formed through the joining of an egg and sperm, and the early embryonic development of major organs over the first 8 weeks. The fetal stage from 8 weeks until birth is a period of rapid growth and differentiation, with the fetus increasing 20 times in length and developing functioning organs. The document also notes some potential problems in pregnancy like infertility, miscarriage, abortion, and threats to development from environmental factors and a mother's health behaviors during pregnancy.
The document discusses several key topics related to human genetics and genomics:
1. It provides an overview of human chromosomes, sex determination, patterns of inheritance like dominance and codominance, and chromosomal disorders.
2. It describes several human genetic disorders like sickle cell anemia, cystic fibrosis, and Huntington's disease, explaining how mutations cause these conditions.
3. It discusses techniques used to study the human genome like DNA manipulation, restriction enzymes, gel electrophoresis, and DNA sequencing.
4. It outlines the goals and findings of the Human Genome Project, including the development of bioinformatics to analyze genomic data.
The document discusses human development from conception through birth. It covers the stages of prenatal development including germinal (conception to implantation), embryonic (implantation to 8 weeks), and fetal (9 weeks to birth). Key topics include genes and DNA, meiosis and mitosis, influences of heredity and environment, risks of infertility, drugs/stress, and the stages of childbirth.
Genes affect every aspect of human development and traits are passed from parents to children. While genes play a major role, environmental factors also influence phenotypes. Genetic counseling can help individuals understand risks of passing on genetic conditions and make informed reproductive decisions. Chromosomal abnormalities can cause developmental issues, but understanding their origins helps reduce stigma.
Sexual differentiation is a complex process involving genetic and hormonal factors that begins with undifferentiated gonads in early fetal development. The presence of the SRY gene on the Y chromosome leads to testis formation while its absence leads to ovary formation. Testes secrete testosterone and MIF which masculinize the internal and external genitalia. In the absence of these, the Mullerian ducts form female internal structures and external genitalia develop along female lines. Disorders of sexual development can occur due to genetic abnormalities, hormonal imbalances, or defects in hormone action or metabolism.
Sex is determined by chromosomal, gonadal, and phenotypic factors. Chromosomal sex is determined at fertilization by the presence of either two X chromosomes (female) or one X and one Y chromosome (male). Between 6-8 weeks of gestation, the undifferentiated gonads will develop into either ovaries or testes depending on the presence of the SRY gene on the Y chromosome. The development of testes or ovaries then leads to further anatomical changes through the secretion of hormones and regression or development of duct systems that result in either male or female phenotypic characteristics. Disorders of sex development can occur when there is a discrepancy between these factors.
This document summarizes key concepts about genes, chromosomes, DNA, and genetic inheritance. It discusses how genes are found on chromosomes and contain DNA, and how parents pass genes to offspring through sex cells like egg and sperm cells. The document also covers genetic disorders like cystic fibrosis and Huntington's disease, explaining how different genetic conditions can be dominant or recessive based on whether one or two copies of an allele are required to exhibit traits. Environmental factors that can influence traits are also mentioned.
This particular slides consist of- what is hypotension,what are it's causes and it's effect on body, risk factors, symptoms,complications, diagnosis and role of physiotherapy in it.
This slide is very helpful for physiotherapy students and also for other medical and healthcare students.
Here is the summary of hypotension:
Hypotension, or low blood pressure, is when the pressure of blood circulating in the body is lower than normal or expected. It's only a problem if it negatively impacts the body and causes symptoms. Normal blood pressure is usually between 90/60 mmHg and 120/80 mmHg, but pressures below 90/60 are generally considered hypotensive.
CHAPTER 1 SEMESTER V COMMUNICATION TECHNIQUES FOR CHILDREN.pdfSachin Sharma
Here are some key objectives of communication with children:
Build Trust and Security:
Establish a safe and supportive environment where children feel comfortable expressing themselves.
Encourage Expression:
Enable children to articulate their thoughts, feelings, and experiences.
Promote Emotional Understanding:
Help children identify and understand their own emotions and the emotions of others.
Enhance Listening Skills:
Develop children’s ability to listen attentively and respond appropriately.
Foster Positive Relationships:
Strengthen the bond between children and caregivers, peers, and other adults.
Support Learning and Development:
Aid cognitive and language development through engaging and meaningful conversations.
Teach Social Skills:
Encourage polite, respectful, and empathetic interactions with others.
Resolve Conflicts:
Provide tools and guidance for children to handle disagreements constructively.
Encourage Independence:
Support children in making decisions and solving problems on their own.
Provide Reassurance and Comfort:
Offer comfort and understanding during times of distress or uncertainty.
Reinforce Positive Behavior:
Acknowledge and encourage positive actions and behaviors.
Guide and Educate:
Offer clear instructions and explanations to help children understand expectations and learn new concepts.
By focusing on these objectives, communication with children can be both effective and nurturing, supporting their overall growth and well-being.
Mental Health and well-being Presentation. Exploring innovative approaches and strategies for enhancing mental well-being. Discover cutting-edge research, effective strategies, and practical methods for fostering mental well-being.
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Michigan HealthTech Market Map 2024. Includes 7 categories: Policy Makers, Academic Innovation Centers, Digital Health Providers, Healthcare Providers, Payers / Insurance, Device Companies, Life Science Companies, Innovation Accelerators. Developed by the Michigan-Israel Business Accelerator
As Mumbai's premier kidney transplant and donation center, L H Hiranandani Hospital Powai is not just a medical facility; it's a beacon of hope where cutting-edge science meets compassionate care, transforming lives and redefining the standards of kidney health in India.
2. Sexual Development
Genetic Sex
Genetic male
Genetic female
Gonadal Sex
Testis
Ovary
Phenotypic sex
Male external genitalia
Female external genitalia
3. Genetically determined Sex:
Sex Chromosomes
In humans they are called X & Y Chromosomes
Sex determination primarily depends on presence or
absence of Y chromosome
Y chromosome is necessary for the formation of
testis
Testis producing gene product – SRY (Sex-
determining Region Y protein)
4.
5. • SRY
DNA binding regulatory protein
It binds the DNA and act as a transcription
factor that initiates transcription of a cascade
of genes necessary for testicular formation
The gene for SRY is located at tip of the short
arm of the Y chromosome
6. Gonadal Development and Sex
Determination
On either side of the embryo, a
primitive/unspecialized gonads arises from the
genital ridge
Develops as Cortex & Medulla
Initially ambi-sexual (up to 6 weeks)
7. In genetic males:
Medulla develops into testis (7 – 8 weeks)
Cortex regresses
Leydig cells (found adjacent to the seminiferous
tubules in the testicle) & Sertoli cells (part of a
seminiferous tubule and helps in the process of
spermatogenesis) appear
Testosterone & MIS (Mullerian-inhibiting
substance) are secreted by Leydig & Sertoli cells
respectively
9. • Embryo
Embryo with functional testis (Male):
Leydig cells secrete Testosterone to fosters the
development of Wolffian duct system
Sertoli cells secrete MIS to inhibits development of
Mullerian duct system
Wolffian duct system develops into Epididymis /
Vas deferens / Seminal vessicles
10. Embryos with functional Ovary (females):
No testosterone so Wolffian duct system regresses
No MIS so allows development of Mullerian duct
system
Mullerian duct system develops into Fallopian tubes
/ Uterus / Cervix / Upper vagina
11.
12. Until 8 weeks in embryonic life, the external
genitalia are bi-potential
Development of External genitalia
• In the presence of testosterone (male):
Testosterone is converted to DHT
(dihydrotestosterone) by 5-alpha reductase
DHT promotes the development of bi-potential
external genitalia to become Male External Genitalia
Enlargement of genital tubercle – Penis
13. Fusion of urethral fold over uro-genital sinus –
Penile urethra
Fusion of labio-scrotal swelling – Scrotum
• In females:
No Testosterone
No DHT
Therefore the bi-potential external genitalia
differentiates in to female external genitalia
Genital tubercle remains – Clitoris
14. Non fusion of uro genital sinus – Lower vagina &
urethra (vestibule)
Non fusion of urethral folds – Labia minora
Non fusion of labio scrotal swelling – Labia
majora
15.
16. Hermaphroditism
• Chromosomal abnormalities
• Hormonal abnormalities
• Chromosomal Abnormalities:
non-disjunction of sex chromosomes during the first
meiotic division usually leads to Non disjunction
during second meiotic division – more complex
abnormalities
Non disjunction during mitotic division after
fertilization – Mosaicism – True Hermaphrodite –
Individual with ovaries & testis
17. • Hormonal abnormalities:
Female pseudo-hermaphroditism
Exposure to exogenous androgens during
development (8 – 13 weeks)
Congenital Adrenal Hyperplasia
o Female type gonads and internal genitalia but male
external genitalia
19. Traits Inherited on Sex Chromosomes
Genes on the Y chromosome are said to be Y-linked,
and those on the X chromosomes are X-linked.
Y – linked traits are rare, because it contains few genes
which have their counterparts on the X –
chromosomes.
The Y – linked traits are pass from male to male only
The only clearly identified traits associated Y
chromosome is infertility.
20. In female, X – linked traits are passed just like
autosomal traits. Two copies are required for
expression of a recessive allele and one for
dominant allele.
In a male a single copy of an X – linked allele
causes expression of the trait
Male is considered hemizygous for X – linked
traits
21. X – linked recessive inheritance
An X – linked recessive trait is expressed in females
if the causative allele is present in two copies.
Usually, an X – linked trait passes from an
unaffected heterozygous mother to an affected son
A man may be healthy enough to transmit it to
offspring, if an X – linked condition is not lethal.
22. • Real case:
A man who had a condition called ichthyosis
characterized with rough, brown, scaly skin, did not
realize his condition was inherited until his daughter
had a son.
By age one the boy’s skin resembled his
grandfather’s
23. An enzyme deficiency blocks removal of
cholesterol from skin cells. As a result, the upper
skin layer cannot peel off, causing a brown, scaly
appearance.
A test of the daughter’s skin cells revealed that she
produces half the normal amount of the enzyme,
indicating that she is a carrier.
24. Another X – linked recessive trait that is not lethal
and therefore does not prevent a man to have
children is colour blindness.
8% of males of European ancestry, 4% of males of
African descent as against 0.4% of females of both
groups have colour blindness.
There are three types of cone cells, defined by the
presence of any of three types of
photopigmentation.
25. An object appears coloured because it reflects
certain wavelengths of light, and each cone type
captures a particular range of wavelengths with its
photopigment.
Each photopigment has a vitamin A – derived
portion called retinal and a protein portion called
an opsin.
The opsin is present because colour vision is
controlled by genes
26. The three types of opsin correspond to short, middle
and long wavelengths of light.
Mutation in opsin genes cause three different types
of colour blindness.
A gene on chromosome 7 encodes short
wavelength opsin, and mutation results in rare
autosomal blue form of colour blindness.
27. Deuteranopia (green colour blindness) means the
eyes lack middle – wavelength opsin, which is
encoded by genes on the X chromosome
Protanopia (red colour blindness) means the eyes
lack long – wavelength opsin, which is encoded by
genes on the X chromosome
28.
29. X – Linked dominant inheritance
Dominant X – linked conditions and traits are rare.
A female with dominant X – linked allele has the
associated trait or illness.
A male who has the allele is usually more severely
affected
Example of an X – linked dominant condition is
incontinentia pigmenti (IP), an inborn error that
Archibald Garrod described in 1906.
30. The name is a reflection of the major sign in
affected females, that is swirls of skin pigment that
arise when melanin penetrates the deeper skin
layers.
31. A newly born girl with IP has yellow, pus – filled
vesicles on her limbs that come and go over the first
few weeks.
The lesions then become warty and eventually give
way to brown splotches that may remain for life,
although they fade with time.
It could be associated with other symptoms such as
patches of hair loss, visual problems, peg –
shaped or underdeveloped teeth and seizures,
mental retardation, paralysis, and developmental
delay occur.
32. Males who inherit the condition are so severely
affected that they do not survive to be born. This
explains why about 25% of women with the
condition miscarry.
The gene that causes IP is called NEMO which
encodes a transcription factor that activates genes
that carry out the immune response and apoptosis in
tissues that are derived from ectoderm, such as skin,
hair, nails, eyes and the brain.
33.
34. X Inactivation
Unlike males, females have two alleles for every
gene on the X chromosome. Therefore X
inactivation balances this inequality among the
sexes.
Early in the development of the female embryo,
most of the genes on one X chromosome in each
cell are inactivated. The inactivation is random.
As such, some cells express the genes on X
chromosome from the mother whereas others
express genes on X chromosome from the father.
35. There is a specific region on the X chromosome
that shuts off some genes on X chromosome. This
region is called X inactivation centre.
However, some few genes on the chromosome still
remain active. Eg genes in the pseudoautosomal
regions (PARs) and some others escape inactivaton.
36. The moment X chromosome is inactivated in one
cell, all the daughter cells have the same X
chromosome inactivated.
In view of the fact that the inactivation occurs early
in development, the adult female has patches of
tissue that differ in their expression of X – linked
genes.
Because each cell in her body has only one active X
chromosome, she is chromosomally equivalent to
the male.
37. The gene that controls X inactivation is called
XIST.
XIST encodes an RNA that binds to a specific site on
the inactivated X chromosome.
The region between the point where the RNA binds
to the chromosome and the tip of the chromosome is
inactivated.
38. X inactivation can alter the gene expression, but not
genetype. This is because, the inactivation is not
permanent, it is reversed in germline cells that
become oocytes.
This implies that a fertilized ovum does not have an
inactivated X chromosome.
39. It is very easy to observe X inactivation at the
cellular level because the inactivated chromosome
absorbs stain much faster than the active X
chromosome.
Inactivated DNA has the methyl group (CH3) that
prevent it from being transcribed into RNA and also
play role in the absorption of the stain.
40. Sex – Limited Traits
Sex – limited traits affect the structure or function of
the body, present, in only males or only females.
Genes responsible for these sex – limited traits may be
X – linked or autosomal.
Eg1, Beard growth and breast size are sex – limited
traits. Women don’t grow beard because they don’t
produce the hormones required for facial hair growth.
Eg 2, Preeclampsia is a sudden increase in blood
pressure in pregnant women as the birth time nears.
41. • It tend to occur in women whose mothers were
affected. However it has also been proven that if a
man’s first wife had the condition, his second wife
has double the risk of been affected
• Again, in another study, it became evident that
women whose mother – in law had preeclampsia
when pregnant with the woman’s husband had about
twice the risk of developing the condition.
42. Sex Influenced Traits
In this situation, an allele is dominant in one sex
but recessive in the other. This may be X – linked or
autosomal.
This different expression pattern can be caused by
hormonal differences between the sexes.
Eg, an autosomal gene for hair growth pattern has
two allele, one that produces hair all over head and
another that causes baldness.
43. The baldness allele is dominant in males but
recessive in females.
A heterozygous male is bald but female counterpart
is not.
A bald woman is homozygous recessive.
44. Homosexuality and Genetics
In Homosexuality, affected individuals are physically
attracted toward members of the same sex.
This sexual orientation has been observed for thousand of
years.
Earlier investigation points to the fact that young children
with homosexuality tendencies experience it well before they
know of its existence.
Studies with twins have suggested genetic influence:
Eg, a study in 1991 found that identical twins are more likely
to be both homosexual than both members of fratenal same –
sex twin pairs.
45. 52% of identical twins pairs in which one was
homosexual, both brothers were homosexual but
only 22% of fratenal twin pairs were homosexuals
.
In 1993, another study traced the inheritance of five
genetic markers on the X chromosome in 40 pairs of
homosexual brothers.
Although these DNA sequences were highly
variable in the general population, they were
identical in 33 of the sibling pairs.
The interpretation was that genes causing male to be
homosexual reside on the X chromosome.
46. Unfortunately, this study never identified the
specific gene responsible for homosexuality.
The findings of this study is still controversial (Dean
Hamer).
There was another study which seemed to confirm
the findings of Dean Hamer.
In this study, siblings were considered. Two
homosexual brothers had another brother who was
heterosexual .
47. The heterosexual brother did not share the X
chromosome markers
Several researchers have refuted Hamer’s findings,
citing that gene controlling homosexual need not
reside on a sex chromosome, where Hamer devoted
all his time.
As a result ongoing studies are searching among the
autosomes for such genes.
48. Scientists altered male fly embryos so that the adult
insects expressed the white gene in every cell of the
insect.
This genetically manipulated male exhibited what
looks like a mating behaviour with each other.
The ability to genetically induce homosexual
behaviour suggest possible genetic control.
In the quest to still understand the genetics of
homosexuality, Scientists have genetically
manipulated male fruit flies to display what appears
to be homosexual behaviour.
A mutant gene called white for white eye colour
when expressed in cells of the eye only.
49. The biochemical basis of the phenotype of the white
gene makes sense.
The white gene translate into an enzyme that controls
eye colour. These enzyme enables cells to use the amino
acid tryptophan.
The ability to use tryptophan is a requirement to
manufacture the hormone serotonin.
When all the fly’s cells express the mutant white gene,
instead of just cells of the eye, serotonin level in the
brain drops, which may cause the homosexual
behaviour.
50. Genomic Imprinting: An Epigenetic Modification
Parent-of-origin Effect:
• One of the tenets of Mendelian genetics is that
reciprocal crosses with autosomal loci produce the
same ratio and phenotypes among the offspring.
• Eg, parents who are each homozygous for different
autosomal alleles have only heterozygous offspring
with the same phenotype regardless of the type of
dominance
51. A1A1(female) x A2A2 (male) A1A1 (male) x A2A2 (female)
Genotype: A1A2 A1A2
Phenotype:
If A1 is dominant A1 A1
If A2 is dominant A2 A2
If incomplete A1A2 A1A2
dominance
52. • An indication of a non-Mendelian process is the
consistent lack of phenotypic equivalence from
reciprocal matings.
• This situation may arise when an allele from parent
always determines the phenotype and the other
allele, although present and not mutated is not
expressed.
• In these instances, either the paternal or maternal
allele at a particular locus is functional and the other
allele derived from the mother or father,
respectively, is repressed (silenced).
53. A A1A1(female) x A2A2 (male) A1A1 (male) x A2A2 (female)
Genotypes: A1A2 A1A2
Phenotype: A2 A1
B B1B1 (female) x B2B2 (male) B2B2 (female) x B1B1 (male)
Genotype: B1B2 B1B2
Phenotype: B1 B2
54. • Theoretically, some X-linked loci may also show a
parent-of-origin pattern of inheritance.
C C1C1(female) x C2Y (male) C2C2 (female) x C1Y (male)
Genotype: C1C2 (female) C1Y (male) C1C2 (female) C2Y (male)
Phenotype: C2 Lethal C1 Lathal
D D1D1 (female) x D2Y (male) D2D2 (female) x D1Y (male)
Genotype: D1D2 (female) D1Y (male) D1D2 (female) x D2Y (male)
Phenotype: D1 D1 D2 D2
55. • In each of these four examples of non-Mendelian
inheritance, the activity of particular allele is
predicated on the sex of the parent.
• The process that leads to the expression of an allele
that is inherited from one parent and the inactivation
of its counterpart in the other parent is an epigenetic
phenomenon called genomic imprinting.
• Epigenetic is the study of heritable changes in gene
expression (active versus inactive genes) that does
not involve changes to the underlying DNA
sequence.
• The two salient features of genomic imprinting are
heritability and reversibility.
56. • Heritability signifies the biological transmission of
either an active or an inactive allele from a parent to
an offspring.
• Reversibility denotes the ability of the
transcriptional status of an allele to be wiped clean
during each generation before the establishment of a
new imprint that is determined by the sex of the
parent.
• There about 50 known loci, and possibly as many as
200, where the parent-of-origin specifies whether
an allele is transcribed or inactivated in human
somatic cells.
57. • Generally, the terms ‘‘imprinted gene’’, ‘‘genomic
imprint’’ or ‘‘imprint’’ refer only to the allele that
has been silenced.
• The active allele is assumed to occur by default.
58. Gene Silencing
• Genomic imprinting is a cyclical process that
normally endures for one generation.
• Both imprints from the previous generation are
erased in primordial germ cells and replaced with a
paternal and maternal imprint during
spermatogenesis and oogenesis respectively.
• The imprint of each allele at a locus is usually
maintained through all somatic cell divisions
following fertilization.
• If an active imprinted allele is not transcribed in all
cell types, it is turned on at the appropriate time and
cellular site.
59. • Studies of the molecular differences between pairs
of oppositely imprinted alleles have identified some
gamete-specific processes that contribute to the
regulation of individual alleles.
• DNA methylation has been identified as the
principal means of parent-of-origin allele silencing.
• DNA methylation entails the addition of a methyl
(CH3) group to a cytosine residue in DNA that is
immediately, 5’ to a guanine residue. That is,
cytosine of a CpG dinucleotide is methylated.
• DNA methylation is established and maintained by
DNA methyltransferase.
60.
61. • The extent of DNA methylation is inversely
correlated with gene activity.
• The regions of CpG repeats (CpG islands), that
precede commonly expressed genes (housekeeping
genes) are not methylated.
• However, genes that are transcriptionally inactive
are frequently heavily methylated.
• During early mammalian development, the level of
methylation of genomic DNA undergoes dramatic
changes.
• After the zygote is formed, almost all of the
chromosomal DNA demethylated, and as
development proceeds, both general and gene-
specific DNA methylation is restored.
62. • Despite the well documented relationship between
DNA methylation and repression, some genes
require methylation to be active.
• DNA methylation can affect gene transcription
either directly or indirectly:
A methylated promoter region may block
transcription by preventing the binding of
transcription factors.
The DNA methyl groups may bind a protein that, in
turn binds other proteins that change the
conformation of the chromosome and make the
promoter region inaccessible to transcription.