Lorenzo's oil
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The document discusses genetic inheritance, including sex-linked traits and rare genetic diseases. It focuses on Adrenoleukodystrophy (ALD), an X-linked recessive disease characterized by abnormal accumulation of fatty acids in the adrenal gland and central nervous system. Examples are provided to explain the inheritance patterns and likelihood of passing ALD from a carrier mother to her children.
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Lorenzo´s oil
This document discusses sex determination and inheritance. It notes that sex is determined by heterochromosomes (sex chromosomes) which are either XX in females or XY in males. It describes Klinefelter syndrome, which is a genetic condition where males have an extra X chromosome (XXY). The document also discusses sex-linked inheritance of traits located on the X chromosome, such as hemophilia and color blindness, which can be passed from fathers to sons. It provides brief descriptions of adrenoleukodystrophy, fatty acids, myelin, and hemophilia.
Lorenzo’s oil (1)
The document discusses human sex determination and inheritance. It notes that females have two X chromosomes (XX) while males have one X and one Y chromosome (XY). Some examples of sex-linked traits and diseases are also provided, such as hemophilia and color blindness. Rare genetic diseases like adrenoleukodystrophy are also summarized, including signs and symptoms as well as inheritance patterns for X-linked traits.
Lorenzo´s oil
The document discusses a rare genetic disease called adrenoleukodystrophy (ALD). ALD is caused by an abnormal buildup of fatty acids in the central nervous system, which damages myelin and causes neurological problems. It is an X-linked recessive disease that often leads to death. ALD affects males almost exclusively and a carrier mother has a 25% chance of passing the disease to a son.
Genetics factors
This document discusses genetic inheritance and inherited traits. It explains that humans have 46 chromosomes, including 22 pairs of autosomes and two sex chromosomes. Genetic traits can be inherited in autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns. The document lists several eye diseases that can be inherited, such as glaucoma, cataracts, and retinitis pigmentosa.
Biology 14 1
This document discusses human heredity and genetics. It defines key terms like karyotype, sex chromosome, autosome, and pedigree. It explains that human sex is determined by whether an egg is fertilized by an X or Y chromosome containing sperm. Small changes in single genes can cause genetic disorders by affecting protein structure, as seen in cystic fibrosis and sickle cell disease.
Genetics 3-csbrp
This document discusses genetic disorders, including different inheritance patterns like autosomal dominant, autosomal recessive, and X-linked. Specific genetic disorders are described such as Marfan syndrome, Ehlers-Danlos syndrome, familial hypercholesterolemia, and lysosomal storage diseases. Marfan syndrome is caused by a defect in fibrillin and affects the skeleton, eyes, and cardiovascular system. Ehlers-Danlos syndrome results from defects in collagen and causes hyperelastic skin and hypermobile joints. Familial hypercholesterolemia is caused by LDL receptor mutations, leading to high cholesterol and early atherosclerosis. Lysosomal storage diseases involve deficiencies of lysosomal enzymes that break down complex molecules.
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Genetic disorders can be caused by abnormalities in an individual's DNA ranging from small mutations to additions or subtractions of entire chromosomes. They are classified as Mendelian if caused by a single gene or chromosomal if caused by abnormalities in chromosome number or structure. Examples of genetic disorders discussed include sickle cell anemia, hemophilia, cystic fibrosis, and Down syndrome. Therapies aim to prevent, manage symptoms, or correct genetic abnormalities through approaches like dietary changes, hormone replacement, and gene therapy.
04 mendelian genetics and humans
The document discusses several human traits and genetic disorders that demonstrate Mendelian inheritance patterns, including traits that are autosomal dominant or recessive, X-linked recessive, or sex-influenced. Specific examples covered include blood types, progeria, Huntington's disease, Tay-Sachs disease, phenylketonuria, albinism, familial hypercholesterolemia, sickle cell anemia, hemophilia A, color blindness, and Duchenne muscular dystrophy.
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Lorenzo´s oil
This document discusses sex determination and inheritance. It notes that sex is determined by heterochromosomes (sex chromosomes) which are either XX in females or XY in males. It describes Klinefelter syndrome, which is a genetic condition where males have an extra X chromosome (XXY). The document also discusses sex-linked inheritance of traits located on the X chromosome, such as hemophilia and color blindness, which can be passed from fathers to sons. It provides brief descriptions of adrenoleukodystrophy, fatty acids, myelin, and hemophilia.
Lorenzo’s oil (1)
The document discusses human sex determination and inheritance. It notes that females have two X chromosomes (XX) while males have one X and one Y chromosome (XY). Some examples of sex-linked traits and diseases are also provided, such as hemophilia and color blindness. Rare genetic diseases like adrenoleukodystrophy are also summarized, including signs and symptoms as well as inheritance patterns for X-linked traits.
Lorenzo´s oil
The document discusses a rare genetic disease called adrenoleukodystrophy (ALD). ALD is caused by an abnormal buildup of fatty acids in the central nervous system, which damages myelin and causes neurological problems. It is an X-linked recessive disease that often leads to death. ALD affects males almost exclusively and a carrier mother has a 25% chance of passing the disease to a son.
Genetics factors
This document discusses genetic inheritance and inherited traits. It explains that humans have 46 chromosomes, including 22 pairs of autosomes and two sex chromosomes. Genetic traits can be inherited in autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns. The document lists several eye diseases that can be inherited, such as glaucoma, cataracts, and retinitis pigmentosa.
Biology 14 1
This document discusses human heredity and genetics. It defines key terms like karyotype, sex chromosome, autosome, and pedigree. It explains that human sex is determined by whether an egg is fertilized by an X or Y chromosome containing sperm. Small changes in single genes can cause genetic disorders by affecting protein structure, as seen in cystic fibrosis and sickle cell disease.
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This document discusses genetic disorders, including different inheritance patterns like autosomal dominant, autosomal recessive, and X-linked. Specific genetic disorders are described such as Marfan syndrome, Ehlers-Danlos syndrome, familial hypercholesterolemia, and lysosomal storage diseases. Marfan syndrome is caused by a defect in fibrillin and affects the skeleton, eyes, and cardiovascular system. Ehlers-Danlos syndrome results from defects in collagen and causes hyperelastic skin and hypermobile joints. Familial hypercholesterolemia is caused by LDL receptor mutations, leading to high cholesterol and early atherosclerosis. Lysosomal storage diseases involve deficiencies of lysosomal enzymes that break down complex molecules.
Genetic disorders
Genetic disorders can be caused by abnormalities in an individual's DNA ranging from small mutations to additions or subtractions of entire chromosomes. They are classified as Mendelian if caused by a single gene or chromosomal if caused by abnormalities in chromosome number or structure. Examples of genetic disorders discussed include sickle cell anemia, hemophilia, cystic fibrosis, and Down syndrome. Therapies aim to prevent, manage symptoms, or correct genetic abnormalities through approaches like dietary changes, hormone replacement, and gene therapy.
04 mendelian genetics and humans
The document discusses several human traits and genetic disorders that demonstrate Mendelian inheritance patterns, including traits that are autosomal dominant or recessive, X-linked recessive, or sex-influenced. Specific examples covered include blood types, progeria, Huntington's disease, Tay-Sachs disease, phenylketonuria, albinism, familial hypercholesterolemia, sickle cell anemia, hemophilia A, color blindness, and Duchenne muscular dystrophy.
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A presentation on "Chromosomal and Genetic abnormalities ". Includes info on down syndrome , turner's syndrome,PKU and various other anomalies.
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Sex-linked disorders involve genes located on the X or Y chromosome. They are more commonly expressed in males because males only have one X chromosome, while females have two X chromosomes providing a backup gene that may counteract a recessive gene. Some examples of sex-linked disorders are color blindness and hemophilia, which are caused by recessive gene mutations on the X chromosome and predominantly affect males who have no second X chromosome to compensate.
Ch. 4 human inheritance and genetic disorders [new]
This document provides an overview of human genetics and inheritance, including:
- Humans normally have 23 pairs of chromosomes, but one person in the example has an extra chromosome, likely from a nondisjunction error in meiosis, which could affect their traits.
- Genes determine traits and are located on chromosomes, with two alleles for each gene, one from each parent, coding for proteins that control appearance and function. Some traits are controlled by single genes while others involve multiple genes.
- Sex chromosomes (X and Y) determine sex and carry sex-linked genes, like colorblindness, which is recessive on the X chromosome and thus more common in males.
- Genetic disorders result
Patterns of inheritance
This document discusses various patterns of inheritance including autosomal dominant, autosomal recessive, X-linked dominant, and Y-linked recessive inheritance. It provides examples for each pattern and describes their characteristics such as whether males and females are equally affected, the chance of offspring being affected, and common diseases that follow each pattern of inheritance. The document also briefly discusses non-Mendelian inheritance including mosaicism, imprinting, triplet repeats, and mitochondrial inheritance.
Mutations due to alterations in chromosome number
The document summarizes various types of chromosomal mutations that can occur due to alterations in chromosome number, including euploidy and aneuploidy. It describes specific conditions associated with gains or losses of individual chromosomes, such as Down syndrome (trisomy 21), Turner syndrome (XO), Klinefelter syndrome (XXY), and Edwards syndrome (trisomy 18). These chromosomal abnormalities can result in medical conditions affecting physical and cognitive development.
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The document discusses reproductive sequencing technology and next generation sequencing (NGS) to detect genetic diseases before embryo transfer. NGS can be used in preconception, preimplantation, prenatal and postnatal testing to avoid abnormal pregnancies. NGS can identify most major genetic disorders like aneuploidy. The rest of the document discusses the chromosomes individually, providing details on their size, number of genes, genetic disorders associated with abnormalities of each chromosome including trisomies, monosomies, and other structural abnormalities.
Genetixs
This document discusses genetics and genetic disorders relevant to ENT. It begins with definitions of genetics terms and an overview of heredity and variation. The main types of genetic inheritance patterns - autosomal dominant, autosomal recessive, X-linked - are explained. Many genetic disorders that can cause hearing loss are described, including their inheritance patterns and characteristic features. The document also covers cytogenetic disorders involving extra or missing chromosomes, as well as newer areas of genetics research like gene therapy.
11.2 & 11.3 Complex Patterns of Inheritance
This document discusses several types of complex inheritance patterns:
1) In incomplete dominance, the heterozygous phenotype is intermediate between the two homozygous phenotypes. An example given is red and white flowers producing pink flowers.
2) Codominance occurs when both alleles are expressed in the heterozygous condition, such as with sickle-cell anemia where people produce both normal and sickle-shaped red blood cells.
3) Multiple alleles exist, such as the three alleles that determine blood type (A, B, and O) and the alleles that determine rabbit coat color.
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The document discusses genetic disorders and provides information on their incidence, causes, and examples. Some key points:
- 2-3% of births result in congenital or genetically determined abnormalities. By age 25, around 5% of individuals will have a genetic disorder.
- Examples of genetic disorders discussed include Down syndrome (trisomy 21), Fragile X syndrome, Marfan syndrome, and Klinefelter syndrome.
- Genetic disorders can be caused by numerical chromosome abnormalities like trisomy or monosomy, or structural abnormalities such as translocations, deletions, duplications, inversions, and mutations.
C.Spanu Alport.Syndr.Cong.Balcanic.2009
This document discusses Alport Syndrome, a genetic disorder that affects the glomerular basement membrane (GBM) and can cause progressive kidney disease. It presents three cases of Alport Syndrome with different modes of inheritance: X-linked dominant, autosomal recessive, and autosomal dominant. For each case, it describes the patients' clinical features and pedigrees to demonstrate how inheritance patterns were determined. The conclusion emphasizes the importance of thoroughly examining probands, relatives, and renal biopsy ultrastructure to establish diagnoses and inheritance patterns in Alport Syndrome families.
Genetic disorders 3
The document discusses different patterns of inheritance for single gene disorders:
- Autosomal dominant disorders are expressed when only one copy of the abnormal gene is present and there is a 50% chance of passing it to offspring. Examples include Huntington's disease.
- Autosomal recessive disorders require two copies of the abnormal gene to be expressed and carriers can be unaffected. Examples include many inborn errors of metabolism.
- X-linked disorders are sex-linked, with recessive disorders mostly affecting males and dominant disorders affecting females. Examples include G6PD deficiency and vitamin D-resistant rickets.
Alport syndrome
This document describes a case of a 19-year-old male who presented with proteinuria and microscopic hematuria. Renal biopsy revealed glomerulus and tubules appeared normal on light microscopy but electron microscopy showed glomerular basement membrane lamellation and thinning, consistent with a diagnosis of autosomal dominant Alport syndrome. The patient was prescribed lisinopril and showed stable kidney function on follow up. The background provided on Alport syndrome discusses its inheritance patterns, pathophysiology involving mutations in type IV collagen genes, and clinical features.
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Mendelian (monegenic) disorders: Hemophilia
This document discusses Mendelian or monogenic genetic disorders, which are diseases caused by mutations in single genes. It focuses on hemophilia, an X-linked recessive bleeding disorder caused by deficiencies in specific clotting factors. The key signs of hemophilia include spontaneous bleeding, prolonged bleeding from cuts, and internal bleeding in joints or organs. Currently, there is no cure for hemophilia but treatments aim to replace the missing clotting factor through infusions to control bleeding and prevent joint damage.
Chromosomal Disorder
Chromosomal disorders are genetic diseases caused by abnormalities in chromosomes or genes. Down syndrome, the most common cause of birth defects and intellectual disability, occurs when there is an extra copy of chromosome 21. It affects about 1 in 800 births. Mosaic and translocation Down syndrome are rare types that involve a partial extra chromosome 21. Turner syndrome is when a female is missing one X chromosome and affects about 1 in 2,000 births, causing physical traits like short stature and webbed neck.
Reproductive Sequencing
The advances likes Next Generation Sequencing is more advanced than Microarray Compatability Genomic hybridization and it is 100% of sensitivity and specificity regarding aneuploidy sequencing from all biological samples.
8 Chromosome Disorder 2
Chromosome disorders can involve numerical or structural abnormalities of chromosomes. Numerical abnormalities include aneuploidy, where there is one extra or missing chromosome, and polyploidy, where there are extra sets of chromosomes. Structural abnormalities involve changes in chromosome structure like translocations, deletions, inversions, and rings. Down syndrome is the most common trisomy disorder and is caused by trisomy of chromosome 21. It is characterized by distinctive facial features, mental retardation, congenital heart defects, and shortened life expectancy. Other examples of trisomy disorders include Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18).
Alport syndrome
This PPT is very helpful to all the faculty and medical student to increasing the knowledge of alport syndrome.
Human Inheritance & Genetic Disorders
This document discusses human genetics and genetic disorders. It explains that genes located on chromosomes control human traits and can cause disorders if mutated or in an abnormal number. Some examples of genetic disorders mentioned are cystic fibrosis caused by a recessive gene mutation, sickle cell anemia caused by a codominant allele, and Down syndrome caused by an extra 21st chromosome. Pedigrees and karyotypes are tools that can be used to study genetics and identify genetic disorders in families.
Lorenzo' oil (Autosaved)
1. The document discusses Adrenoleukodystrophy (ALD), a rare genetic disorder, and summarizes the movie Lorenzo's Oil which portrays the journey of a family dealing with a child who has ALD.
2. It then provides details on the history and discovery of ALD, describing it as a disorder resulting from the degradation of the myelin sheath surrounding neurons caused by the accumulation of long chain saturated fatty acids in the brain.
3. The genetics behind ALD are explained, noting that it is an X-linked recessive genetic disorder that predominantly affects males, with sons having ALD if they inherit the recessive allele from their mother.
ALD and Lorenzo's Oil 2
Lorenzo's Oil is a mixture of oleic acid and erucic acid that was developed as a potential treatment for adrenoleukodystrophy (ALD) by Lorenzo Odone's parents. When doctors could not treat Lorenzo's ALD, his parents researched the disease and developed Lorenzo's Oil based on suggestions that a diet high in canola and olive oil may help. Lorenzo's Oil is thought to work by binding with enzymes involved in the production of very long chain fatty acids, which accumulate abnormally in ALD. While it has shown potential for treating ALD, Lorenzo's Oil has not been proven to repair myelin or benefit other demyelinating diseases.
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A presentation on "Chromosomal and Genetic abnormalities ". Includes info on down syndrome , turner's syndrome,PKU and various other anomalies.
Sex – linked inheritance
Sex-linked disorders involve genes located on the X or Y chromosome. They are more commonly expressed in males because males only have one X chromosome, while females have two X chromosomes providing a backup gene that may counteract a recessive gene. Some examples of sex-linked disorders are color blindness and hemophilia, which are caused by recessive gene mutations on the X chromosome and predominantly affect males who have no second X chromosome to compensate.
Ch. 4 human inheritance and genetic disorders [new]
This document provides an overview of human genetics and inheritance, including:
- Humans normally have 23 pairs of chromosomes, but one person in the example has an extra chromosome, likely from a nondisjunction error in meiosis, which could affect their traits.
- Genes determine traits and are located on chromosomes, with two alleles for each gene, one from each parent, coding for proteins that control appearance and function. Some traits are controlled by single genes while others involve multiple genes.
- Sex chromosomes (X and Y) determine sex and carry sex-linked genes, like colorblindness, which is recessive on the X chromosome and thus more common in males.
- Genetic disorders result
Patterns of inheritance
This document discusses various patterns of inheritance including autosomal dominant, autosomal recessive, X-linked dominant, and Y-linked recessive inheritance. It provides examples for each pattern and describes their characteristics such as whether males and females are equally affected, the chance of offspring being affected, and common diseases that follow each pattern of inheritance. The document also briefly discusses non-Mendelian inheritance including mosaicism, imprinting, triplet repeats, and mitochondrial inheritance.
Mutations due to alterations in chromosome number
The document summarizes various types of chromosomal mutations that can occur due to alterations in chromosome number, including euploidy and aneuploidy. It describes specific conditions associated with gains or losses of individual chromosomes, such as Down syndrome (trisomy 21), Turner syndrome (XO), Klinefelter syndrome (XXY), and Edwards syndrome (trisomy 18). These chromosomal abnormalities can result in medical conditions affecting physical and cognitive development.
Rep SEQUENCING ANALYSIS
The document discusses reproductive sequencing technology and next generation sequencing (NGS) to detect genetic diseases before embryo transfer. NGS can be used in preconception, preimplantation, prenatal and postnatal testing to avoid abnormal pregnancies. NGS can identify most major genetic disorders like aneuploidy. The rest of the document discusses the chromosomes individually, providing details on their size, number of genes, genetic disorders associated with abnormalities of each chromosome including trisomies, monosomies, and other structural abnormalities.
Genetixs
This document discusses genetics and genetic disorders relevant to ENT. It begins with definitions of genetics terms and an overview of heredity and variation. The main types of genetic inheritance patterns - autosomal dominant, autosomal recessive, X-linked - are explained. Many genetic disorders that can cause hearing loss are described, including their inheritance patterns and characteristic features. The document also covers cytogenetic disorders involving extra or missing chromosomes, as well as newer areas of genetics research like gene therapy.
11.2 & 11.3 Complex Patterns of Inheritance
This document discusses several types of complex inheritance patterns:
1) In incomplete dominance, the heterozygous phenotype is intermediate between the two homozygous phenotypes. An example given is red and white flowers producing pink flowers.
2) Codominance occurs when both alleles are expressed in the heterozygous condition, such as with sickle-cell anemia where people produce both normal and sickle-shaped red blood cells.
3) Multiple alleles exist, such as the three alleles that determine blood type (A, B, and O) and the alleles that determine rabbit coat color.
Genetics 1-csbrp
The document discusses genetic disorders and provides information on their incidence, causes, and examples. Some key points:
- 2-3% of births result in congenital or genetically determined abnormalities. By age 25, around 5% of individuals will have a genetic disorder.
- Examples of genetic disorders discussed include Down syndrome (trisomy 21), Fragile X syndrome, Marfan syndrome, and Klinefelter syndrome.
- Genetic disorders can be caused by numerical chromosome abnormalities like trisomy or monosomy, or structural abnormalities such as translocations, deletions, duplications, inversions, and mutations.
C.Spanu Alport.Syndr.Cong.Balcanic.2009
This document discusses Alport Syndrome, a genetic disorder that affects the glomerular basement membrane (GBM) and can cause progressive kidney disease. It presents three cases of Alport Syndrome with different modes of inheritance: X-linked dominant, autosomal recessive, and autosomal dominant. For each case, it describes the patients' clinical features and pedigrees to demonstrate how inheritance patterns were determined. The conclusion emphasizes the importance of thoroughly examining probands, relatives, and renal biopsy ultrastructure to establish diagnoses and inheritance patterns in Alport Syndrome families.
Genetic disorders 3
The document discusses different patterns of inheritance for single gene disorders:
- Autosomal dominant disorders are expressed when only one copy of the abnormal gene is present and there is a 50% chance of passing it to offspring. Examples include Huntington's disease.
- Autosomal recessive disorders require two copies of the abnormal gene to be expressed and carriers can be unaffected. Examples include many inborn errors of metabolism.
- X-linked disorders are sex-linked, with recessive disorders mostly affecting males and dominant disorders affecting females. Examples include G6PD deficiency and vitamin D-resistant rickets.
Alport syndrome
This document describes a case of a 19-year-old male who presented with proteinuria and microscopic hematuria. Renal biopsy revealed glomerulus and tubules appeared normal on light microscopy but electron microscopy showed glomerular basement membrane lamellation and thinning, consistent with a diagnosis of autosomal dominant Alport syndrome. The patient was prescribed lisinopril and showed stable kidney function on follow up. The background provided on Alport syndrome discusses its inheritance patterns, pathophysiology involving mutations in type IV collagen genes, and clinical features.
Modes of inheritance (part 2)-Dr.Gourav
This document discusses genetic disorders and their patterns of inheritance. It covers chromosomal disorders, single gene disorders, multifactorial inheritance, and mitochondrial disorders. Specific genetic disorders discussed in detail include Huntington's disease, Marfan syndrome, cystic fibrosis, thalassemia, and their inheritance patterns (e.g. autosomal dominant, autosomal recessive). Clinical features, investigations, management, and treatment options are provided for each disorder.
Mendelian (monegenic) disorders: Hemophilia
This document discusses Mendelian or monogenic genetic disorders, which are diseases caused by mutations in single genes. It focuses on hemophilia, an X-linked recessive bleeding disorder caused by deficiencies in specific clotting factors. The key signs of hemophilia include spontaneous bleeding, prolonged bleeding from cuts, and internal bleeding in joints or organs. Currently, there is no cure for hemophilia but treatments aim to replace the missing clotting factor through infusions to control bleeding and prevent joint damage.
Chromosomal Disorder
Chromosomal disorders are genetic diseases caused by abnormalities in chromosomes or genes. Down syndrome, the most common cause of birth defects and intellectual disability, occurs when there is an extra copy of chromosome 21. It affects about 1 in 800 births. Mosaic and translocation Down syndrome are rare types that involve a partial extra chromosome 21. Turner syndrome is when a female is missing one X chromosome and affects about 1 in 2,000 births, causing physical traits like short stature and webbed neck.
Reproductive Sequencing
The advances likes Next Generation Sequencing is more advanced than Microarray Compatability Genomic hybridization and it is 100% of sensitivity and specificity regarding aneuploidy sequencing from all biological samples.
8 Chromosome Disorder 2
Chromosome disorders can involve numerical or structural abnormalities of chromosomes. Numerical abnormalities include aneuploidy, where there is one extra or missing chromosome, and polyploidy, where there are extra sets of chromosomes. Structural abnormalities involve changes in chromosome structure like translocations, deletions, inversions, and rings. Down syndrome is the most common trisomy disorder and is caused by trisomy of chromosome 21. It is characterized by distinctive facial features, mental retardation, congenital heart defects, and shortened life expectancy. Other examples of trisomy disorders include Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18).
Alport syndrome
This PPT is very helpful to all the faculty and medical student to increasing the knowledge of alport syndrome.
Human Inheritance & Genetic Disorders
This document discusses human genetics and genetic disorders. It explains that genes located on chromosomes control human traits and can cause disorders if mutated or in an abnormal number. Some examples of genetic disorders mentioned are cystic fibrosis caused by a recessive gene mutation, sickle cell anemia caused by a codominant allele, and Down syndrome caused by an extra 21st chromosome. Pedigrees and karyotypes are tools that can be used to study genetics and identify genetic disorders in families.
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Lorenzo' oil (Autosaved)
1. The document discusses Adrenoleukodystrophy (ALD), a rare genetic disorder, and summarizes the movie Lorenzo's Oil which portrays the journey of a family dealing with a child who has ALD.
2. It then provides details on the history and discovery of ALD, describing it as a disorder resulting from the degradation of the myelin sheath surrounding neurons caused by the accumulation of long chain saturated fatty acids in the brain.
3. The genetics behind ALD are explained, noting that it is an X-linked recessive genetic disorder that predominantly affects males, with sons having ALD if they inherit the recessive allele from their mother.
ALD and Lorenzo's Oil 2
Lorenzo's Oil is a mixture of oleic acid and erucic acid that was developed as a potential treatment for adrenoleukodystrophy (ALD) by Lorenzo Odone's parents. When doctors could not treat Lorenzo's ALD, his parents researched the disease and developed Lorenzo's Oil based on suggestions that a diet high in canola and olive oil may help. Lorenzo's Oil is thought to work by binding with enzymes involved in the production of very long chain fatty acids, which accumulate abnormally in ALD. While it has shown potential for treating ALD, Lorenzo's Oil has not been proven to repair myelin or benefit other demyelinating diseases.
Mendel 1
Gregor Mendel was an Austrian monk who conducted experiments with pea plants at the University of Vienna in the 19th century. He studied traits like seed color and plant height through self-pollination and cross-pollination. Mendel discovered that traits are passed from parents to offspring through discrete units he called factors, now known as genes. Through his experiments and statistical analysis, Mendel was able to deduce basic principles of inheritance and establish the foundations of classical genetics.
Adrenoleukodystrophy
Adrenoleukodystrophy is a genetic disorder that results in the buildup of very long chain fatty acids in the body, mainly in the nervous system, testes, and adrenal glands. There are three main types that affect children and men. Symptoms include muscle loss, vision problems, seizures, cognitive and motor decline. It is diagnosed through blood and genetic tests and MRI. It is an X-linked hereditary disease caused by a mutation in the ABCD1 gene. While there is no cure, treatments aim to manage symptoms and prevent further progression of the disease.
Diversity Of Cell Life
1. While all living things are composed of cells that share basic chemistry and genetic code, there are differences in how cells are specialized and how they work together in multicellular organisms.
2. Cells can be unicellular, functioning independently as single-celled organisms, or multicellular, organized into tissues, organs and organ systems. Specialized cells perform different tasks depending on the organism.
3. Osmotic pressure, the pressure caused by water movement across membranes, is regulated to prevent animal cells from bursting through isotonic fluids like blood, while plant cells are protected by cell walls.
Student Work ALD
Adrenoleukodystrophy is a rare genetic disease caused by a buildup of very long chain fatty acids in the nervous system, adrenal glands, and testes. It affects approximately 1 in 20,000 males and can be detected through a blood test showing high levels of fatty acids. The buildup causes myelin loss in the brain, reducing brain activity and ability to control muscles. There are three main categories: childhood cerebral form affecting children ages 4-8, adrenomyelopathy affecting men in their 20s, and Addison's disease affecting adrenal function. Currently there is no cure, but bone marrow transplants and Lorenzo's oil are being tested as treatments to reduce fatty acid levels. Gen
Biomarkers to Diagnostics – The Essential Tool Box for Drug Development - Joh...
Biomarkers to Diagnostics – The Essential Tool Box for Drug Development - Joh...Life Sciences Network marcus evans
Biomarkers to Diagnostics – The Essential Tool Box for Drug Development - Presentation delivered by Johan Luthman, Vice President, Neuroscience Clinical Development, Eisai Pharmaceuticals at the marcus evans Evolution Summit Fall 2015 in Las VegasTypes of Biomarkers
This ppt will provide you a brief yet effective information about major types of biomarkers, their definitions, their significance in disease dignosis & treatment, how they are being & are developed to be used as an effective dignostic tool for Cancer & their other future implications in other fields of medicine.
Biomarkers
Biomarkers can be used at various stages of drug development from target discovery through clinical trials. In clinical trials, biomarkers are used to demonstrate safety and efficacy. Safety biomarkers monitor organ function while efficacy biomarkers can serve as surrogate endpoints. Validation of biomarkers is required and involves establishing a relationship between the biomarker and clinical outcome through various phases of evaluation. Biomarkers must also be fit-for-purpose and their clinical validity depends on the trial design used to evaluate them.
Fatty acid oxidation
1) Fatty acids are oxidized through beta-oxidation in the mitochondria to generate acetyl-CoA units and energy in the form of ATP.
2) Beta-oxidation involves four steps - dehydrogenation, hydration, dehydrogenation, and thiolysis - that occur in a recurring cycle to shorten the fatty acid by two carbons each time.
3) Fatty acid oxidation provides the major source of energy during periods of fasting or low carbohydrate availability and yields substantial ATP through the electron transport chain.
Biomarkers
The Journal of Biomarkers in Drug Development (JBDD) promotes rigorous research that makes a significant contribution in advancing knowledge for Biomarkers in Drug Development. JBDD includes all major themes pertaining to Biomarkers used in Drug Development.
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Patterns of inheritance
The document discusses different patterns of inheritance for genetic conditions:
- Autosomal dominant requires only one copy of the mutated gene to cause the condition, affecting both sexes equally. Examples given are Progeria and Huntington's disease.
- Autosomal recessive requires two copies of the mutated gene to cause the condition, can skip generations, and affects both sexes equally. Examples given are albinism and Tay-Sachs disease.
- X-linked recessive mainly affects males and can skip generations as fathers pass the gene to daughters but not sons. Examples given are hemophilia and Duchenne muscular dystrophy.
- X-linked dominant affects females more than males, with fathers passing the gene to
Linked inheritance
Breaking down Biology into simpler bits is the most effective way to learn hence this presentation aims to simplify the concept of 'Linked Inheritance' which makes understanding Inheritance better.
Sex chromosomes1
Females have two X chromosomes and are homogametic, while males have one X and one Y chromosome and are heterogametic. During meiosis, females produce gametes containing one X chromosome, while males produce half X-containing and half Y-containing gametes. Fertilization results in XX females from a female X gamete and either male gamete, and XY males from a male Y gamete combined with a female X gamete. Several conditions can result from abnormalities in sex chromosome number, such as Turner syndrome occurring from XO, and Klinefelter syndrome from XXY.
Sex chromosomes
Females have two X chromosomes and are homogametic, while males have one X and one Y chromosome and are heterogametic. During meiosis, females produce gametes containing one X chromosome, while males produce half X-containing and half Y-containing gametes. Fertilization results in XX females from a female X gamete and either male gamete, and XY males from a male Y gamete combined with a female X gamete. Several conditions can result from abnormalities in sex chromosome number, such as Turner syndrome occurring from XO, and Klinefelter syndrome from XXY.
Sex chromosomes1
Females have two X chromosomes and are homogametic, while males have one X and one Y chromosome and are heterogametic. During meiosis, females produce gametes containing one X chromosome, while males produce half X-containing and half Y-containing gametes. Fertilization results in XX females from a female X gamete and either male gamete, and XY males from a male Y gamete combined with a female X gamete. Several conditions can result from abnormalities in sex chromosome number, such as Turner syndrome occurring from XO, and Klinefelter syndrome from XXY.
14.1 -- BIO
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.
Sex linked traits
Here are the answers to the guide questions:
Q19. The genotype of the male is XcY (color-blind)
Q20. The genotype of the female is XcX (carrier)
Q21. The chance that the child will be color-blind is 50%
Q22. The chance that a daughter will be color-blind is 0%
Q23. The chance that a son will be color-blind is 100%
PPT-GENETICS.pptx
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.
Sex linked traits
This document discusses genes that have more than two alleles (poly-allelic genes). It provides examples of poly-allelic genes, including the ABO blood type gene, which has three alleles that produce the A, B, and O antigens. The document explains that poly-allelic genes can generate more genotypes than di-allelic genes. It also discusses X-linked inheritance and provides Drosophila eye color as an example, noting that X-linked traits are observed disproportionately in males.
Patterns of Inheritance (Genetics)
This document provides information on patterns of inheritance and Mendelian genetics. It discusses Mendel's experiments with pea plants and his laws of inheritance, including dominance, segregation and independent assortment. It also describes different patterns of inheritance such as autosomal dominant and recessive traits, as well as X-linked and Y-linked inheritance. Examples of genetic disorders that follow each pattern are provided, such as autosomal dominant polycystic kidney disease, sickle cell anemia, hemophilia, and Y-chromosome infertility.
Genetic disorders
Genetic disorders can be caused by mutations to genes or chromosomes. Gene defects affect a single gene, usually impacting one protein, while chromosomal defects impact many genes on a chromosome. Genetic disorders are inherited in autosomal dominant, autosomal recessive, or sex-linked patterns. Examples provided include cystic fibrosis (recessive), Huntington's disease (dominant), and hemophilia (sex-linked). Chromosomal defects like monosomy, trisomy, and translocations can be detected via karyotyping, which identifies abnormalities involving number or structure of chromosomes. Specific conditions discussed are Turner syndrome, Down syndrome, and Klinefelter syndrome.
Chromosomal Inheritance
Chromosomes contain genes and determine inheritance patterns. During meiosis, each sex cell receives half the number of chromosomes as somatic cells. Sex chromosomes (X and Y) determine sex, with females usually being XX and males XY. Sex-linked traits are found on the X chromosome and are expressed differently in males versus females. Nondisjunction can result in extra or missing chromosomes, causing conditions like Down syndrome. Sexual determination is based on the number of sex chromosomes, with a single Y resulting in a male phenotype. Modes of inheritance include autosomal dominant, autosomal recessive, and sex-linked traits.
Tutorial01 (1)
The document provides an overview of basic genetics concepts including genes, chromosomes, DNA, genotypes, phenotypes, dominant and recessive traits, and patterns of inheritance. It discusses Mendel's laws of inheritance and how they can be used to calculate inheritance probabilities. It also summarizes different modes of inheritance including autosomal recessive, autosomal dominant, X-linked, codominant, and mitochondrial inheritance and provides examples for each.
Chromosomal basis of inheritance
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
Modes of inheritance
Lecture given by Leon MUTESA, MD,PhD , a genetician teaching at UR( UNIVERSITY OF RWANDA, HUYE CAMPUS,SCHOOL OF MEDICINE AND PHARMACY, DEPARTMENT OF GENERAL MEDICINE AND SURGERY).
CHROMOSOMAL ABNORMALITIES
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.
3- human 3 genetics without genetic counseling.ppt
The document discusses human genetics and chromosome abnormalities. It covers several key points:
1) It describes the basic components and structure of chromosomes and DNA. This includes the number and types of chromosomes in human cells.
2) It explains different types of chromosome abnormalities including numerical abnormalities (aneuploidy, polyploidy) and structural abnormalities (deletions, duplications, inversions, translocations).
3) It discusses several patterns of inheritance for genetic conditions including autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance.
Sims genetics
The document discusses human genetics and genetic disorders. It provides information on normal human karyotypes, sex determination, and inheritance patterns of genetic diseases. Key points include that humans normally have 22 pairs of autosomes and 1 pair of sex chromosomes, with females being 46 XX and males 46 XY. Genetic diseases can be hereditary, familial, or congenital. The Lyon hypothesis states that in females, one X chromosome is randomly inactivated in each cell. Examples of genetic disorders discussed include Down syndrome, Turner syndrome, Klinefelter syndrome, and various lysosomal storage diseases.
Lesson 14.1
A karyotype shows the complete set of chromosomes arranged in pairs by size. Studying karyotypes is important for understanding human genetics. Humans have 46 chromosomes, including two sex chromosomes that determine sex (XY for males and XX for females). The other 44 chromosomes are called autosomes. Many human traits are inherited according to patterns of simple dominance, codominance, or sex-linked inheritance. Pedigree analysis can be used to determine the inheritance patterns of traits within families.
Genetics
A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples discussed include trisomies like Down syndrome, monosomies like Turner syndrome, and deletions or duplications of chromosome segments. Structural aberrations alter chromosome structure and include translocations, inversions, and deletions. Specific disorders result from defects in certain chromosomes.
Similar to Lorenzo's oil (20)
3- human 3 genetics without genetic counseling.ppt
3- human 3 genetics without genetic counseling.ppt
Lorenzo's oil
- 1. LORENZO'S OIL Andrea Castro and Quico Ponce
- 2. INTRODUCTION ● Inheritance of sex: Genes that determine sex are in a pair of chromosomes called heterochromosomes. In total de karyotype wil be 46 chromosomes, the sex ones XX for the female and XY for male. If in some case the genotype of a human is different form these, it will be considered a numerical aberration, therefor there will be a mutation. For example the Klinefleter's syndrome, where men have an extra chromosome, and so present to XX such as woman, so the phenotype will be a male but with feminine characteristics.
- 3. Sex-linked inheritance: There are some genes for example located in the X chromosome, then they are sex-linked and will be passed down with the X chromosome. For example Hemophilia is X-linked recessive, a Y- linked one will mean woman not suffering from this disease, only men. Rare disease: They only affect a minor part of the population, less that 5 per 10000 inhabitants. There are more or less 700 rare diseases affecting the 7% of the world population.
- 4. Adrenoleukodystrophy: ALD is a X-linked disease, and is characterised by: -Abnormal accumulation of long chain saturated fatty acids in cells of the adrenal gland and white matter of the central nervous system. -In the nervous system it occurs the diminishing of electrical nerve transmission. Signs and symptoms: -ataxia, abnormal behaviour, adrenal insufficiency, seizures, dementia...
- 5. A: normal a:ALD a<A XA XA: healthy XA Xa: healthy but carrier XaXa: not commmon XAY: normal XaY: sufferer John and Elisa are both healthy bur Elisa carries ALD. What are the chances of having a son with ALD and daughter with ALD? XA Y (father) x XA Xa (mother) Ovum XA Ovum Xa Sperm XA XA XA (healthy XA Xa (healthy female) carrir female) Sperm Y XA Y (healthy Xa Y (sufferer male) male)
- 6. Fatty acids: -Are long chains of hydrocarbons. -The ones with single bonds between the carbon atoms surrounded by hydrogen aroms are saturated, with a double bond they are unsaturated. -A single double bond is a monounsaturated, two or more double bonds are polyunsaturated. Myelin: It is a litoprotein that covers the axon of neurons. It propagates the electrical impulses through neurons.
- 7. Hemophilia: X-linked recessive, makes a deficiency of blood clotting factors. Female carriers have sons with this disease. A: healthy a: hemophilia XA XA (healthy), XA Xa (healthy, carrier), Xa Xa (suferer) XA Y (healthy), Xa Y (sufferer)