The document summarizes a seminar on genetics presented by two speakers. The objectives of the seminar were to define key genetics terms like genetics, chromosomes, cell division, mutations, and the human genome project. The presentation defined these terms and discussed inheritance patterns, types of mutations and their effects, genetic disorders, and the outcomes and disadvantages of the human genome project.
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
OBSTETRICS & GYNAECOLOGICAL NURSING
GENETIC COUNSELLING DURING PREGNANC
INTRODUCTION-
COUNSELLING-Counselling is consultation, mutual interchange of opinions, deliberating together.A process in which the counsellor assist the counselee .
Provides concrete, accurate information about inherited disorders.
Provides information about prognosis and follow up.
Discuss ways in which disease can be prevented.
lesson plan on Management of nursing educational institutionsSADDAM HUSSAIN
Topic is -Management of nursing educational institutions
subject nursing education
for msc student
can use for lesson plan , presentation ,and for study.
The biopsychosocial model reflects the development of illness through the complex interaction of biological factors (genetic, biochemical, etc.), psychological factors (mood, personality, behavior, etc.) ... A person may have a genetic predisposition for a disease, but social and cognitive factors must trigger the illness.
OBSTETRICS & GYNAECOLOGICAL NURSING
GENETIC COUNSELLING DURING PREGNANC
INTRODUCTION-
COUNSELLING-Counselling is consultation, mutual interchange of opinions, deliberating together.A process in which the counsellor assist the counselee .
Provides concrete, accurate information about inherited disorders.
Provides information about prognosis and follow up.
Discuss ways in which disease can be prevented.
lesson plan on Management of nursing educational institutionsSADDAM HUSSAIN
Topic is -Management of nursing educational institutions
subject nursing education
for msc student
can use for lesson plan , presentation ,and for study.
The biopsychosocial model reflects the development of illness through the complex interaction of biological factors (genetic, biochemical, etc.), psychological factors (mood, personality, behavior, etc.) ... A person may have a genetic predisposition for a disease, but social and cognitive factors must trigger the illness.
The importance of screening newborn babies for birth defectsmeenakshiclinic
Screenings of newborn babies are designed to pursue early recognition of certain disorders with an aim to prevent serious consequences in the future. However, it is important to know that these screenings are not necessarily confirmatory diagnosis and may demand further investigations.
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Example OneDiscuss how new discoveries in genetics are contr.docxSANSKAR20
Example One
Discuss how new discoveries in genetics are contributing to our understanding of the HIV virus
and how some folks exposed to HIV have been able to escape developing AIDS.
The HIV virus daily infects 14,000 people, however some individuals’ odds of contracting the
virus are very low. Dr. Donald Mosier of the Script Institute was puzzled by this and launched a
genetic study to determine why certain individuals are resistant to the HIV virus. What Dr.
Mosier discovered was the resistant people inherited a deletion mutation that gave them
protection. Within the deletion mutation, the receptor CCR5, is excluded. This deleted section
of the CCR5 receptor functions as a lock, therefore people born with the mutation will not get
the HIV virus. Those individuals that are homozygous – have two copies of the same deletion
gene, are immune to the virus and are protected. Individuals that are heterozygous – have two
different genes – have some protection from HIV because their body have half the “locks.” Dr.
Mosier further studied populations and discovered the deleted mutation was higher in certain
parts of the world and among Caucasians.
Explain the genetic connection between phenotype and genotype discovered by Mendel in the
19th century.
Genetics helps to understand human diversity, not only in today’s world but in the past as well.
When studying genetics it is important to understand the relationship between phenotype and
genotype. A phenotype is defined as an observable physical characteristic whereas a genotype
is the set of specific genes an organism carries (Allen, Anton, Stanford 60). In the video lesson,
Anne Stone commented the phenotype can be impacted by the environment. For example, if
there is not sufficient food or there is disease, this can impact an individual’s height which is a
phenotype. Anthropologist Geneticist Joanna Mountain explained a phenotype can be
“measurements and anything we can describe about a person from appearance to metabolism.”
Utilizing the garden pea plant to conduct his experiment, Gregor Mendel was able to recognize
traits were passed on from parents to offspring. He knew traits were inherited but did not know
how this inheritance worked. Mendel’s Principles of Segregation which states in an organism,
alleles occurs in pairs and when gametes sex cells get produced, alleles separate so each
gamete contains one member of each pair. Further experiments by Mendel lead him to
conclude in a unit of inheritance, meaning offspring received receive genes from each parent.
Theses principles laid the foundation for future scientists to study inheritance.
Vocabulary
Phenotype – observable characteristics; expression of genetic instructions; something you can
measure
Genotype – genetic make-up of an individual; every person has a unique genotype made of
genes inherited from parents
Recessive – a masked trait or covered up
Dominant – mask recessive characteristics
P ...
-Basic Concepts in Genetics
-What is Epigenetic?
-History of Epigenetic
-How do epigenetics work?
-Epigenetics and the Environment
-Epigenetic Inheritance
-Epigenetics in Psychiatry
Chapter 3BiopsychologyFigure 3.1 Different brain imagi.docxwalterl4
Chapter 3
Biopsychology
Figure 3.1 Different brain imaging techniques provide scientists with insight into different aspects of how the human
brain functions. Left to right, PET scan (positron emission tomography), CT scan (computed tomography), and fMRI
(functional magnetic resonance imaging) are three types of scans. (credit “left”: modification of work by Health and
Human Services Department, National Institutes of Health; credit “center": modification of work by
"Aceofhearts1968"/Wikimedia Commons; credit “right”: modification of work by Kim J, Matthews NL, Park S.)
Chapter Outline
3.1 Human Genetics
3.2 Cells of the Nervous System
3.3 Parts of the Nervous System
3.4 The Brain and Spinal Cord
3.5 The Endocrine System
Introduction
Have you ever taken a device apart to find out how it works? Many of us have done so, whether to attempt
a repair or simply to satisfy our curiosity. A device’s internal workings are often distinct from its user
interface on the outside. For example, we don’t think about microchips and circuits when we turn up
the volume on a mobile phone; instead, we think about getting the volume just right. Similarly, the inner
workings of the human body are often distinct from the external expression of those workings. It is the
job of psychologists to find the connection between these—for example, to figure out how the firings of
millions of neurons become a thought.
This chapter strives to explain the biological mechanisms that underlie behavior. These physiological and
anatomical foundations are the basis for many areas of psychology. In this chapter, you will learn how
genetics influence both physiological and psychological traits. You will become familiar with the structure
and function of the nervous system. And, finally, you will learn how the nervous system interacts with the
endocrine system.
Chapter 3 | Biopsychology 73
3.1 Human Genetics
Learning Objectives
By the end of this section, you will be able to:
• Explain the basic principles of the theory of evolution by natural selection
• Describe the differences between genotype and phenotype
• Discuss how gene-environment interactions are critical for expression of physical and
psychological characteristics
Psychological researchers study genetics in order to better understand the biological basis that contributes
to certain behaviors. While all humans share certain biological mechanisms, we are each unique. And
while our bodies have many of the same parts—brains and hormones and cells with genetic codes—these
are expressed in a wide variety of behaviors, thoughts, and reactions.
Why do two people infected by the same disease have different outcomes: one surviving and one
succumbing to the ailment? How are genetic diseases passed through family lines? Are there genetic
components to psychological disorders, such as depression or schizophrenia? To what extent might there
be a psychological basis to health conditions such as childhood obesity?
To e.
Chapter 3BiopsychologyFigure 3.1 Different brain imagi.docxketurahhazelhurst
Chapter 3
Biopsychology
Figure 3.1 Different brain imaging techniques provide scientists with insight into different aspects of how the human
brain functions. Left to right, PET scan (positron emission tomography), CT scan (computed tomography), and fMRI
(functional magnetic resonance imaging) are three types of scans. (credit “left”: modification of work by Health and
Human Services Department, National Institutes of Health; credit “center": modification of work by
"Aceofhearts1968"/Wikimedia Commons; credit “right”: modification of work by Kim J, Matthews NL, Park S.)
Chapter Outline
3.1 Human Genetics
3.2 Cells of the Nervous System
3.3 Parts of the Nervous System
3.4 The Brain and Spinal Cord
3.5 The Endocrine System
Introduction
Have you ever taken a device apart to find out how it works? Many of us have done so, whether to attempt
a repair or simply to satisfy our curiosity. A device’s internal workings are often distinct from its user
interface on the outside. For example, we don’t think about microchips and circuits when we turn up
the volume on a mobile phone; instead, we think about getting the volume just right. Similarly, the inner
workings of the human body are often distinct from the external expression of those workings. It is the
job of psychologists to find the connection between these—for example, to figure out how the firings of
millions of neurons become a thought.
This chapter strives to explain the biological mechanisms that underlie behavior. These physiological and
anatomical foundations are the basis for many areas of psychology. In this chapter, you will learn how
genetics influence both physiological and psychological traits. You will become familiar with the structure
and function of the nervous system. And, finally, you will learn how the nervous system interacts with the
endocrine system.
Chapter 3 | Biopsychology 73
3.1 Human Genetics
Learning Objectives
By the end of this section, you will be able to:
• Explain the basic principles of the theory of evolution by natural selection
• Describe the differences between genotype and phenotype
• Discuss how gene-environment interactions are critical for expression of physical and
psychological characteristics
Psychological researchers study genetics in order to better understand the biological basis that contributes
to certain behaviors. While all humans share certain biological mechanisms, we are each unique. And
while our bodies have many of the same parts—brains and hormones and cells with genetic codes—these
are expressed in a wide variety of behaviors, thoughts, and reactions.
Why do two people infected by the same disease have different outcomes: one surviving and one
succumbing to the ailment? How are genetic diseases passed through family lines? Are there genetic
components to psychological disorders, such as depression or schizophrenia? To what extent might there
be a psychological basis to health conditions such as childhood obesity?
To e ...
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
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2 Case Reports of Gastric Ultrasound
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
2. SEMINAR ON
GENETICS
Subject: Advanced Nursing Practice
MEDERATOR:
PRESENTER:
Mr. Gopal singh
Navpreet Kaur
MSc(N) Child Health Nursing MSc(N) 1st year
Lecturer
SGL Nursing College
SGL Nursing College
Semi Jalandhar.
Semi Jalandhar.
3. OBJECTIVES
a.)
b.)
c.)
d.)
e.)
f.)
At the end of teaching students will be able to:
Define genetics.
Define chromosome.
Enlist the type of cell division.
Define mutation.
Define human genome project.
Disadvantages of human genome project.
4. MEANING OF TERM GENETICS
The term genetics was introduced by Bateson in 1906.
It was derived from Greek word ‘gene’ which means ‘to
become’ or ‘to grow into’. Therefore, genetics is the
science of coming into being.
Definition:
Genetics is the branch of biological science
which deals with the transmission of characteristics from
parents to offspring.
5. GENE
A gene is the basic physical and functional unit
of hereditary. Genes, which are made up of DNA,
act as RNA instructor to make molecules called
proteins.
In humans genes vary in size from a few hundred
DNA bases to more than 2 million bases. The
Human Genome Project has estimated that
humans have between 20,000-25,000 genes.
Every person has two copies of each gene, one
inherited from each parent.
6.
7. CHROMOSOME
In the nucleus of each cell, the DNA molecule is
packed into thread like structure called
chromosomes.
Each chromosome is made up of DNA tightly coiled
many times around proteins called histones that
support its structure.
Chromosomes are not visible in the cell’s nucleus not
even under a microscope when the cell is not
dividing.
However, the DNA that makes up chromosomes
becomes more tightly packed during cell division
and is then visible under a microscope.
8.
9. DEOXYRIBONUCLEIC ACID (DNA)
It is a nucleic acid that contains the genetic
instructions for the development and function of
living things. All known cellular life and some
viruses contain DNA.
The main role of DNA in the cell is the long-term
storage of information. It is often compared to a
blueprint, since it contains the instructions to
construct other components of the cell, such as
proteins and RNA molecules.
The DNA segments that carry genetic information
are called gene, but other DNA sequences have
structural purposes, or are involved in regulating the
expression of genetic information.
10. CELL DIVISION
1. MITOSIS
2. MEIOSIS
1. MITOSIS:
This is a continuous process involving four
distinct stages seen by light microscopy.
Prophase
Metaphase
Anaphase
Telophase
11.
12. MEIOSIS
Meiosis produces gametes. On fertilization
when the male gamete(sperm cells) and the female
gamete(ovum) unite, the resulting zygote is diploid,
because each gamete was haploid.
Unlike mitosis, meiosis involve two distinct
cell division rather than one. Additionally meiosis
produce four daughter cells not two, all different
from the parent cell from each other.
This is the basis of genetic diversity and the
uniqueness of each human individual.
14. MUTATION
The term mutation is defined as a physic-chemical
change in the gene, large or small. The gene
mutation
is permanent change in DNA base
sequence that makes up a gene. Mutation range
in size from a single DNA building block to a large
segment of a chromosome.
Gene mutations occur in two ways:
Inherited from a parent, or
Acquired during a person’s lifetime.
24. EFFECT OF GENE MUTATION ON
HEALTH AND DEVELOPMENT:
To function correctly, each cell depends on
thousands of proteins to do their jobs in the right
places at the right times.
Something, gene mutation prevents one more
of these proteins from working properly.
By changing a gene’s instructions for making a
protein to protein, a mutation can cause the
protein to malfunction or to be missing entirely.
25. GNETIC DISORDER:
When it can disrupt normal
development or cause a medical condition. A condition
caused by mutations in one or more genes is called a
genetic disorder.
26. MECHANISM OF INHERITANCE
A particular disorder might be described as
“running in a family” if more than one person in the
family has the condition.
Some disorders that affect multiple family members
are caused by gene mutations, which can be
inherited. Other conditions that appear to run in
families are not inherited.
Instead, environmental factors such as dietary habits
or a combination of genetic and environmental
factors are responsible for these disorders.
27. MENDELLAN THEORY OF INHERITANCE
Mendelian Inheritance is so called because our
understanding of it started with the observations
of an Augustinian monk named Gregor Mendel in
the 19th century.
Genes provide the information for the growth,
development and function of our bodies. When a
gene is changed, there is a different massage sent
to the cells. A gene change that makes the genes
faulty is called a mutation.
28. PATTERN OF INHERITANCE
Autosomal Dominant:
One mutated copy of the gene in each cell is
sufficient for a person to be affected by an
autosomal dominant disorder.
Each affected person usually has one
affected parent. Autosomal dominant disorders
tend to occur in every generation of an affected
family
29. MAIN CHARACTERISTICS OF
AUTOSOMAL DOMINANT INHERITANCE
Vertical transmission, men and women equally
affected, variable expression, reduced penetrance
(in some disorder), and advanced paternal age
associated with sporadic cases. Examples of
autosomal dominant disorder:
Huntington disease
Marfan syndrome
Neurofibromatosis type 1
Hereditary breast and ovarian cancer
30.
31. AUTOSOMAL RECESSIVE
Two mutated copies of the gene are present in
each cell when a person has an autosomal
recessive disorder. An affected person usually has
unaffected parents who each carry a single copy
of the mutated gene.
Autosomal recessive disorders are typically not
seen in every generation of
an affected family.
32. MAIN FEATURES OF AUTOSOMAL
RECESSIVE INHERITANCE
Horizontal occurrence in families, men and
women affected
equally, associated with
consanguinity and association with particular
ethnic groups.
Examples of autosomal recessive disorders:
Cystic fibrosis
Thalessemia
Sickle cell anaemia
Phenylketonuria
33. SEX LINKED INHERITANCE
a.) X- linked Dominant(affected father)
X-linked dominant disorders are caused
by mutations in genes on the X chromosomes .
Females are more frequently affected than males
and the chance of passing on an X-linked
dominant disorder differs between men and
women.
34. B.) X-LINKED RECESSIVE
X-linked recessive disorders are also caused by
mutations in genes on the X chromosome.
Males are more frequently affected than
females and the chance of passing on the disorder
differs between men and women.
35. X-LINKED RECESSIVE(AFFECTED FATHER)
In this example a man with an X-linked recessive
condition has two unaffected daughters who each
carry one copy of the gene mutation and two
unaffected sons who do not have the mutation.
36. X-LINKED RECESSIVE (CARRIER
MOTHER)
In this example an unaffected woman carrier one
copy of a gene mutation for an X-linked recessive
disorder. She has an affected son, an unaffected
daughter who carries one copy of the mutation
and two unaffected children who do not have the
mutation.
37. HUMAN GENOME PROJECT
INTRODUCTION:
The genome is defined as the total genetic
material contained within the chromosomes of an organism and
carried by DNA. Transcriptome is the transcribed messenger
RNA complement and the proteome the translated protein
constitution.
The Human Genome Project (HGP) began formally
in 1990 and is a 13year effort coordinated by the US
Department of Energy and the National institute of Health
(NIH). It finalized almost 2years earlier than expected. It was
an enormous task as the aim was to sequence 3 billion base
pairs and identified approximately 30,000 genes.
38. MAJOR WORK DONE UNDER HGP
1. Isolation of disease genes
a.) Functional cloning
b.) Positional cloning
2. Comparative biology of humans and other
organisms
3. Advances in molecular diagnostic
4. Therapeutical benefits
39. OUTCOME OF HGP
1. The complete genome sequence is likely to yield
predictable and unpredictable results and benefits. It
will provide the ultimate genetics “blue print” of the
human.
2. The amount of time required to identify genes via
positional cloning and other approaches continue to
decreases.
3. One of the unanticipated outcomes understanding of
environmental as well as genetic factors in
development and diseases.
4. Cloning of diseases gene helps in diagnosis of
various genetics factor in development and diseases.
5. Helps in development of Pharmacogenomics.
40. CONT..........
5. Has a genetic basis in identifying various
psychiatric disorders.
6. Helps in understanding of complex social trait.
7. Helps in improved knowledge on mutations.
8. Better understanding of developmental biology.
9. Improvement in gene therapy.
10. Understanding of polygenic disorders. E.g.
cancer, diabetes.
11. Identification of human gene and their functions.
41. DISADVANTAGES
1. The research on human will make very sensitive
data available that will affect the personal and
private lines of individual.
2. Once it is known that a person carries genes for
an incurable disease, the parson can go in
depression by thinking how the society will treat
wins.
3. Individuals’ substandard genome sequence may
be discriminated.
42. Sr No.
1.
Journal’s name
Abstract
Scientifical American The study reported that 150 genetic
variations that could be used to predict
journals
whether a person was genetically
included to see their 100th birthday. The
results were based on research through
the genomes of more than 1,000
entrains. Previous studies have
suggested that tiny contributions from
hundred of genetic factors combine to
account for about 25% of variation in
human longevity. The remaining 75% is
attributed to environmental influence.
2.
Annual journals.
Maynard V. Olson
Vol.13.
Page no. 1-27.
The central preoccupation of human
genetics is an effort to understand the
genotypic basis of human phenotypic
diversity. Although recent progress in
identifying the gene that when mutated,
underline major genetic influences on the
vast range of variables and at least partially
43. BIBLIOGRAPHY
1. Versha Katira, Basics of human genetics,
Published by CBS Publishers, Edition 1st Page no.
55-56.
2. Daniel l. Hartl, Elizabeth W. Jones, Essential
genetics a genomics prospective. Published by
Jones and Bartlett. Edition 3rd Page no. 250-251.
3. Navneet Kumari, Essential genetics, published by
Lotus publisher, Edition 1st Page no.10-37.
4. Suresh Kumar Sharma, Human Genetics in
nursing, Published by Jaypee publisher. Edition 1st.
Page no. 1-45.
5. www.genome.gov.in