Which of the following is true of mutations They are very common T.pdf

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Which of the following is true of mutations? They are very common They are all neutral They are all bad They are all good They are the ultimate source of genetic diversity Why is an autosomal recessive disorder more likely to occur when blood relatives have children? Blood relatives tend to mate more often than non-related individuals Blood relatives tend to have more similar alleles than non-related individuals Blood relatives tend to have more mutations than non-related individuals Blood relatives tend to have a greater occurrence of pleiotropy than non- related individuals Blood relatives tend to have more homogenous genes than non-related individuals Which of the following is a practical application of DNA profiling? Linking suspects to crime scenes Identifying victims of a natural disaster Determining family relationships between individuals All of the above are practical applications of DNA profiling Solution Q.No 20 They are the ultimate source of genetic diversity Q.No 21 Blood relatives tend to have more homogenous genes than non-related individuals Q.No 22 All of the above are practical applications of DNA profiling.

This document discusses homosexuality and examines potential reasons why people become homosexual. It first provides statistics showing that more people now know someone who is gay or lesbian compared to the past. It then reviews studies that have explored biological and genetic factors like prenatal hormone exposure, twin studies, and chromosome markers that may contribute to homosexuality. However, the document notes these factors are only partially stimulating and many homosexuals can change. Environmental factors like social acceptance, urbanization, influence from jobs or living in gay communities may also play a role. Family dynamics like divorce, absent parents, and strict fathers are also theorized to potentially influence sexual orientation development.

GENETICS IN PSYCHIATRY.pdf

ShanuSoni7

This document provides an overview of genetics in psychiatry. It begins with definitions of genetics and psychiatric genetics. It then discusses the history of genetics, basic genetics concepts like genes and genomes, and types of inheritance patterns like dominant, recessive, X-linked, and polygenic inheritance. The document reviews study designs used in psychiatric genetics research like family, twin, and adoption studies. It also discusses methods of genetic analysis including linkage analysis, association studies, and candidate gene studies. Overall, the document provides a comprehensive introduction to the field of psychiatric genetics.

LANDMARK STUDIES ON GENETICS OF SCHIZOPHRENIA bikram.pptx

BikramKafle2

This document summarizes landmark genetic studies on schizophrenia. Family, twin, and adoption studies provide strong evidence that schizophrenia has a genetic component. Twin studies find higher concordance rates in identical twins compared to fraternal twins, indicating genetic influence. Adoption studies find higher rates of schizophrenia in children of biological parents with schizophrenia, even when adopted away, supporting a genetic rather than environmental transmission. Linkage and association studies have identified potential susceptibility genes on several chromosomes. Overall, the studies establish that schizophrenia has significant genetic risk factors.

Lecture 6 candidate gene association full

Lekki Frazier-Wood

This document summarizes a lecture on genetic association studies and candidate gene studies. It describes the differences between linkage and association studies, case-control and quantitative trait study designs, and candidate gene versus genome-wide association studies. Key concepts explained include population stratification, Hardy-Weinberg equilibrium, multiple testing corrections, and interpreting genetic association results. Examples are provided to illustrate genetic principles like counting alleles and expected genotypes.

E1a1 biological explanations for criminality

Aarono1979

1. The document examines several biological explanations for criminality, including family and twin studies that look at the genetic links between relatives with criminal histories. 2. Family and twin studies have shown that individuals are more likely to commit crimes if their parents or grandparents were also criminals, suggesting a genetic component. Identical twins were also more likely to both be criminals compared to non-identical twins. 3. However, there are limitations to these studies, as shared environment and observational learning within families could also explain criminal behavior patterns. Chromosome abnormalities have also been linked to aggression and criminality in some studies, but the links are not definitive.

E1a1 biological explanations for criminality

Aarono1979

1. The document examines several biological explanations for criminality, including family and twin studies that compare criminal tendencies between relatives who share genes versus environment. 2. Family and twin studies provide some evidence that criminality may be genetically linked, as identical twins were both criminal over 50% of the time, compared to 22% for non-identical twins. 3. However, the evidence is inconclusive as chromosome studies of criminals found no definitive "criminal gene" and not all individuals with chromosome abnormalities exhibited criminal behaviors. Genetics may interact with environment and upbringing.

Autism and it’s genetic implications

Rajeshwari Kannan

The document discusses the genetics behind autism spectrum disorder (ASD). It notes that while the genetics are complex, research suggests both genetic and environmental factors play a role. Studies of twins have found concordance rates between 56-95% in identical twins, suggesting a strong genetic component. Chromosomal abnormalities like deletions, duplications, and inversions have also been linked to ASD. The document examines different genetic studies of autism in twins, siblings, and families that provide evidence for a genetic basis of ASD. It concludes that autism likely has both genetic and environmental causes.

Human genome project[1]

somsscience7

The document summarizes basic principles of genetics including alleles, dominant and recessive traits, and how traits are inherited from parents. It then discusses the goals and accomplishments of the Human Genome Project which was completed in 2000, two years ahead of schedule. The document notes some social, ethical, and legal implications of the project, including issues around genetic discrimination and patenting of DNA sequences. It also describes different types of genetic disorders like single gene disorders, chromosomal abnormalities, and multifactorial disorders.

This document discusses the genetic aspects of several psychiatric disorders including autism spectrum disorder, schizophrenia, and bipolar disorder. Family, twin, and genetic studies provide evidence of hereditary factors for each disorder. For autism, 15% of cases are associated with a known genetic mutation and genes on chromosomes 2 and 7 may contribute to risk. Concordance rates from twin studies support genetic influences for all three disorders. Specific genes have been identified that may increase vulnerability to each condition, and gene-environment interactions also appear to play a role in some cases. Overall, the document finds that while genes are involved in psychiatric conditions, they do not solely determine risk, as environmental factors are also important.

Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docx

walterl4

Chapter 3: The New Genetics Alma Villanueva, MA California State University, Los Angeles Overview Genetic Code The Beginning of Life Male & Female Twins Genotype & Phenotype Disorders Genetic Counseling Genetic Code Cells Basic unit of life Trillions! Nucleus Chromosomes Thread– like structures made up of DNA & protein 23 pairs DNA (Deoxyribonucleic acid) 2 strands twisted in a double helix Chemical composition of molecules that contain the genes Contains all of the information required to build/maintain the cell 3 Genes Small section of the chromosome 18,000 – 23,000 genes Each gene provides a unique recipe to make a protein 4 bases Code for your traits A - adenine T - thymine C - cytosine G – guanine Only 4 possible pairs A-T; T-A; C-G; G-C http://mybrainnotes.com/brain-dna-behavior.html 4 Allele A variation of a gene Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes Everyone inherits alleles from sperm & ovum Genetic diversity Distinguishes each person Allows the human species to adapt to pressures of the environment Genome Full set of genes with instructions to make a living organism Genomes exist for each species Video about Genes 5 The Beginning of Life Two Parents, Millions of Gametes Gamete Reproductive cell Sperm or Ovum Each contains 23 pairs Zygote Cell formed with union of Sperm & Ovum Produce a new individual with 23 chromosomes from each parent Conception http://predictingbabygender.info/tag/intercourse-timing/ Matching genes Genotype Organism’s entire genetic inheritance, or genetic potential. Homozygous (same zygote) Two genes of one pair that are exactly the same in every letter of their code Heterozygous Two genes of one pair that differ in some way Usually not an issue Male of Female? Humans usually possess 46 chromosomes 44 autosomes and 2 sex chromosomes SEX chromosome = 23rd pair Female – XX Male – XY Mother’s contain X Father’s may have X or Y X chrom. Is larger & more genes Y contain SRY, making male hormones & organs It's a girl! Uncertain Sex “ambiguous genitals,” = child's sex is not abundantly clear a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX shown here a baby boy (left) and girl (right). Too Many Boys? Is sex selection the parents’ right or a social wrong? Preference for boys in many areas of world Ways to prevent female birth Inactivating X sperm before conception In vitro fertilization (IVF) Aborting XX fetuses My Strength, My Daughter slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India The current sex ratio of children in India suggests that this campaign has not convinced every couple. New Cells Within hours of conception 23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome Two sets.

Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docx

keturahhazelhurst

chapter 3

Traveon Brassfield

This document provides an overview of genetics and heredity. It discusses DNA and chromosomes, how genes determine traits (phenotype) from our genetic code (genotype), how a single cell develops into a full organism through cell differentiation and gene interactions, and different patterns of inheritance such as dominant/recessive genes. It also covers genetic abnormalities like Down syndrome and how nature and nurture both influence traits and conditions over one's lifetime. Genetic counseling and testing are discussed as ways to learn about genetic risks but also have uncertainties.

Berger ls 7e ch 3

Jenna Ave-Lallemant

The document summarizes key concepts about genetics and heredity, including: - Genes contain DNA instructions that determine traits like appearance and behavior. Humans have about 25,000 genes across 46 chromosomes. - Development begins at conception when sperm and egg fuse to form a single cell called a zygote containing a full set of genes. This cell then differentiates and multiplies to form all the body's cells and tissues. - Genes interact with each other and the environment to determine a person's phenotype, or observable characteristics. While genes influence traits, environmental factors also play a role.

Genetics in schizophrenia

Dr. Madhur Basnet

The document discusses various genetic studies of schizophrenia, including family, twin, and adoption studies. Family studies found an increased risk of schizophrenia in relatives of schizophrenic probands, suggesting a genetic basis. Twin studies estimated the heritability of schizophrenia to be around 80%, while adoption studies found an increased risk of schizophrenia in children adopted away from schizophrenic biological mothers. Overall, these various study designs provide strong evidence for a genetic contribution to schizophrenia.

Genes and MS.pptx

SimonBurall1

This document discusses genetics and multiple sclerosis (MS). It notes that while MS risk is partially hereditary, with siblings and children of those with MS at higher risk, there is no single "MS gene". Twin studies find the heritability of MS is around 35-75%, meaning genetic factors explain some but not all of the differences in MS risk between individuals. Genome-wide association studies have identified over 200 genetic variants associated with MS risk, primarily related to immune response genes, but these variants still only explain about 20% of heritability. Larger studies continue to search for rarer genetic variants in an effort to account for more of the heritability of MS.

Genetic counselling - a review

Dr Medical

https://userupload.net/06gt5zcwvh90 Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.[1] The process integrates: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence Education about inheritance, testing, management, prevention, resources Counseling to promote informed choices and adaptation to the risk or condition.

B7 lesson part three

samuelaylward

PPT-GENETICS.pptx

JesterFelizarta

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.

genetic disorder and cancer.pptx

department of pharmaceutical sciences, dr. harisingh gour university sagar mp.

1. The document discusses genetic disorders and cancer, covering topics like common genetic disorders, causes of genetic disorders, symptoms, single gene disorders, cancer characteristics, and genes commonly mutated in cancer. 2. It provides details on different types of genetic disorders like chromosomal, complex/multifactorial, and single-gene disorders. Common examples like Down syndrome and cystic fibrosis are mentioned. 3. The causes of genetic disorders include gene mutations from environmental factors like chemical exposure. Symptoms vary depending on the disorder but can include developmental delays, organ issues, and neurological problems. 4. Single gene disorders can be dominant, recessive, or X-linked. Cancer arises from gene mutations that disrupt cell growth

Jewish Genetic Disorders: What Your Congregants Should Know

Chicago Center for Jewish Genetic Disorders

Presentation at the CDC

Jae Sevelius

This document summarizes a presentation on current issues in HIV research with transgender populations. It begins with definitions of key terms related to gender identity. It then discusses challenges in collecting data on transgender populations, such as which individuals should be counted. The presentation notes that transgender women face disproportionately high rates of HIV compared to other groups. Barriers to healthcare and gender affirmation for transgender women are discussed as drivers of HIV risk. Research gaps are identified, such as understanding HIV risk for transgender men and developing trans-inclusive PrEP implementation. The presentation concludes by emphasizing the importance of research to address HIV disparities among transgender individuals.

Biotech 2012 spring-7_-rflp_0

BioinformaticsInstitute

Genetic testing uses methods like RFLP analysis and DNA typing to analyze mutations associated with diseases. RFLP analysis involves detecting changes in restriction enzyme sites that can indicate different gene variants linked to diseases. DNA typing uses analysis of microsatellite repeats and VNTR sequences, which are highly variable between individuals, to identify genetic differences for applications like paternity testing and forensic analysis. The cystic fibrosis gene was located through a process of chromosome walking that used RFLP markers and linkage analysis to progressively narrow down the region of chromosome 7 containing the gene.

Patterns of inheritance

Drhunny88

This document discusses pedigree analysis and genetic inheritance patterns. It provides definitions of key terms like proband and describes the symbols and structures used in a pedigree. The main genetic inheritance patterns of autosomal dominant, autosomal recessive, X-linked, and Y-linked traits are explained. It notes that a pedigree can provide clues about a disorder's inheritance and help assess risk to family members.

Put to the test as genetic screening gets cheaper and easier,.docx

amrit47

Put to the test: as genetic screening gets cheaper and easier, it's raising questions that healthcare providers aren't prepared to answer The American Prospect, November 2010 When my children were born in the mid-1990s, new parents could already see that prenatal genetic testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were having children at older ages, with resulting difficulties and risks. More and more parents faced challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they received unfavorable results. I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests-- was surprisingly painful. At least genetic counselors and other professionals were available to help guide us. By that point, amniocentesis had been in wide use for more than two decades. As researchers identified the genetic markers associated with a growing list of important conditions, educated, secular, and affluent communities began to embrace genetic testing. A small but lucrative market in assisted reproductive technologies quickly emerged, which provided parents with greater control over the genetic characteristics of their offspring. In some parts of America, new diagnostic technologies provoked unease regarding their eugenic potential. In retrospect, these innovations were incredibly tame. Technological limits, cost, intrusiveness, and risk constrained the scope of screening efforts. Roughly one in every 200 amniocenteses resulted in miscarriage, which made the procedure too risky to justify screening the full population of pregnant women. The human genome had yet to be sequenced. Newborn screening was routinely used to identify a handful of important metabolic disorders, but it was a very expensive process. There was a certain clarity, too. The most common use of amniocentesis was (and remains) to detect conditions associated with very serious physical or intellectual disabilities. When such conditions were detected, most parents chose to terminate the pregnancy. Fast forward to 2010. Prospective parents can now be tested before pregnancy, and those found to be carriers for serious conditions have the option of in-vitro fertilization, whereby embryos can be pre- tested for genetic markers associated with Alzheimer's disease, hemophilia, muscular dystrophy, Tay- Sachs disease, and more. Many of these same markers can also be detected by do-it-yourself genetic- testing kits, which are beginning to appear on the Internet and on drugstore shelves. Walgreens may soon sell a cheap home test that covers 37 genetic conditions. (Sales are postponed pending approval by the Federal Drug Administration.) You will soon ...

Form 5 chapter 9-variation

Bong Tong

1. Genetic variation arises from mutations and recombinations and provides the basis for evolution. Phenotypes are external traits while genotypes are genetic makeup. 2. There are many sources of genetic variation within and between populations, including multiple alleles per locus, heterozygosity, and linkage disequilibrium between loci. 3. The Hardy-Weinberg principle states that allele and genotype frequencies remain stable over generations under certain conditions, but factors like non-random mating, genetic drift, migration and natural selection can cause evolutionary changes by altering these frequencies.

Genetics in Psychiatry

Dr. Sriram Raghavendran

This document discusses genetics concepts and terms relevant to psychiatry. It begins by defining key genetic terms like heritability, Mendelian disease, complex disease, alleles, loci, linkage, and genome-wide association studies. It then discusses underlying concepts in psychiatric genetics like the biopsychosocial model, gene-environment interactions, Mendelian and non-Mendelian inheritance, genetic models, and linkage disequilibrium. Specific examples of gene-environment interactions and Mendelian disorders in psychiatry are provided.

Genetic screening counseling Prenatal Testing M Phil 17 2-15

Yahya Noori, Ph.D

This document provides an overview of genetic counseling, screening, and prenatal testing. It discusses: - The purpose of genetic screening to identify individuals at risk for genetic disorders and provide reproductive options. - Methods of genetic counseling including gathering a family history, physical exam, and laboratory testing to establish diagnoses. - Prenatal testing options like nuchal translucency measurement and amniocentesis to detect chromosomal abnormalities. - Principles of genetic screening tests and the importance of follow-up diagnostic testing for positive results. - Factors that influence genetic risk like penetrance and expressivity of traits. - Examples of career screening programs and challenges in genetic counseling like consanguinity.

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Which of the following is true of mutations They are very common T.pdf

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