05 pedigree charts
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A pedigree chart shows a record of a family's history with a genetic condition by mapping transmissions across generations. It uses symbols to represent individuals and their affected status, organized into generations to study patterns of inheritance. Genetic counselors use pedigree charts to help determine how a disease is distributed in an affected family, as they offer an ethical way to study human genetics alternatives to experimental breeding.
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A pedigree is a chart that depicts a family's genetic history over multiple generations. It is used by scientists and genetic counselors to analyze patterns of inheritance for genetic traits or disorders. A pedigree shows relationships between family members and can indicate whether a disorder is autosomal or sex-linked based on who is affected. It can also reveal if a trait is dominant or recessive based on whether the disorder appears in every generation or can skip generations.
Huntington pedigree chart
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The document discusses pedigree analysis for determining inheritance patterns of genetic traits. It covers basic symbols used in pedigrees and different modes of inheritance including autosomal dominant and recessive, sex-linked, mitochondrial, maternal effect, sex-influenced, sex-limited, and multifactorial inheritance. Rules are provided for assigning genotypes to individuals in pedigrees and calculating probabilities of offspring being affected based on parental genotypes. Conditional probability calculations are also demonstrated to account for uncertainty in parental genotypes.
Enzymes
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This document discusses pedigree analysis and Mendelian inheritance patterns. It begins by describing Mendel's laws of segregation and independent assortment. It then provides examples of traits Mendel studied and traits in Drosophila that follow dominant and recessive patterns. The document discusses how human genetic diseases can be caused by recessive alleles. It provides details on lethal and conditional lethal alleles. The remainder of the document focuses on cystic fibrosis as a recessive genetic disease, explaining how the defective CF gene causes the condition. It concludes by describing how pedigree analysis is used to determine inheritance patterns of human traits and genetic diseases.
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Mendelian Inheritance
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Pedigree charts ppt
A pedigree is a chart of a family's genetic history over generations used by genetic counselors. It displays individuals as symbols connected to show familial relationships. Interpreting a pedigree identifies if a condition is autosomal or X-linked and dominant or recessive by examining patterns of affected individuals and their relatedness. Pedigrees are a tool for understanding inheritance of genetic disorders.
Cromosomal number variation
The document discusses chromosomal variations including euploidy, polyploidy, aneuploidy, and several specific aneuploid syndromes in humans caused by an extra or missing chromosome. It describes common aneuploid syndromes like Trisomy 13, 18, 21, Turner Syndrome, Klinefelter Syndrome, and XYY Syndrome that result from an additional chromosome and the phenotypes associated with each one including developmental delays, physical abnormalities, and health risks. It notes that chromosomal variations involving changes in chromosome number can lead to distinct syndrome characteristics.
Pedigree Basics!
Pedigrees are like family trees that show the transmission of traits and diseases between generations. They indicate whether a trait is dominant or recessive and if it is transmitted on an autosome or the X chromosome. Pedigrees use symbols to represent individuals and their genotypes or phenotypes. An example pedigree is analyzed to determine the genotypes of each individual based on their offspring. Practice problems are given to allow interpretation of pedigrees related to traits such as the ability to roll the tongue or cause albinism.
Variation of chromosomes
I tried to show different chromosomal abberations which can cause different abnormalities in different organisms.
pedigree analysis
Pedigree analysis is an important tool for studying human inherited diseases. Pedigrees make relationships within families easier to visualize, especially in large families. They are used to determine the mode of inheritance, such as dominant, recessive, X-linked, etc. The document then discusses why pedigrees are used for humans instead of other methods due to small family sizes and uncontrolled matings in humans. It provides examples of different modes of inheritance and discusses analyzing dominant and recessive pedigrees to determine genotypes.
Chromosomal abnormalities
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
Non-Mendelian Inheritance
This document discusses several forms of non-Mendelian inheritance including incomplete dominance where traits show a combined phenotype, co-dominance where offspring exhibit both parental traits together, multiple alleles where more than two alleles can code for a trait, maternal and paternal effects where the parent's environment or genotype influences the offspring's phenotype, epigenetic inheritance involving modification to genes or chromosomes early in development, and gene conversion being a DNA recombination process that transfers sequence information between DNA helices.
Chromosomal abnormalities
Chromosomal abnormalities are alterations in a person's karyotype that can be detected by studying their chromosomes. There are two main types: numerical abnormalities which involve changes in chromosome number like monosomy, trisomy, Klinefelter syndrome, and Down syndrome; and structural abnormalities which involve changes in chromosome structure like deletions, duplications, translocations, and inversions. Common numerical abnormalities result in conditions such as Turner syndrome, Klinefelter syndrome, and Down syndrome which can cause intellectual disabilities and other health issues.
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Cloning endangered or extinct species could help protect biodiversity by preventing further species loss. The cloning process involves transferring the nucleus of a donor somatic cell into an egg cell that has had its nucleus removed. The resulting embryo would develop and could be used for captive breeding programs to boost wild populations. While cloning animals is technically possible, there are ethical concerns about interfering with nature and cloned animals may face health issues. Public opinion on animal cloning is mixed, with some seeing benefits to conservation but others believing it is morally wrong to clone animals. The likelihood of successfully cloning an extinct species in the next 40 years is debated but seen by many as possible or probable.
Genetic basis for congenital heart defects
This document summarizes the current knowledge about the genetic basis of congenital heart defects. It discusses how genetic testing can evaluate children with heart disease for genetic alterations, with many tests now available clinically. The document provides information on genetic and clinical evaluation of children with cardiac disease and tables to aid clinicians. While most congenital heart defects were once thought to be isolated cases, research has found both environmental and genetic causes. Some syndromes associated with congenital heart defects like DiGeorge syndrome and Noonan syndrome are discussed as examples.
Put to the test as genetic screening gets cheaper and easier,.docx
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-
care 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 ...
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05 pedigree charts
- 1. PEDIGREE CHARTS A family history of a genetic condition © 2007 Paul Billiet ODWS
- 2. What is a pedigree chart? Pedigree charts show a record of the family of an individual They can be used to study the transmission of a hereditary condition They are particularly useful when there are large families and a good family record over several generations. © 2007 Paul Billiet ODWS
- 3. Studying human genetics You cannot make humans of different types breed together Pedigree charts offer an ethical way of studying human genetics Today genetic engineering has new tools to offer doctors studying genetic diseases A genetic counsellor will still use pedigree charts to help determine the distribution of a disease in an affected family © 2007 Paul Billiet ODWS
- 4. Symbols used in pedigree charts Normal male Affected male Normal female Affected female Marriage A marriage with five children, two daughters and three sons. The eldest son is affected by the condition. Eldest child ↔ Youngest child © 2007 Paul Billiet ODWS
- 5. Organising the pedigree chart A pedigree chart of a family showing 20 individuals © 2007 Paul Billiet ODWS
- 6. Organising the pedigree chart Generations are identified by Roman numerals I II III IV © 2007 Paul Billiet ODWS
- 7. Organising the pedigree chart Individuals in each generation are identified by Arabic numerals numbered from the left Therefore the affected individuals are II3, IV2 and IV3 I II III IV © 2007 Paul Billiet ODWS