Comprehensive Guide to Genetic Pedigree Analysis and Probability Concepts

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Biology - Genetics

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user_hodr Created by 9 mon ago

Cards in this deck(71)
What is the primary purpose of inspecting family pedigrees in genetics?
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How do you test a hypothesis for the mode of inheritance using family pedigrees?
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What happens if data is inconsistent with a hypothesis in pedigree analysis?
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What assumption is made for outsiders marrying into a family when studying rare traits?
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What are two key characteristics of autosomal recessive traits?
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What is a notable feature of autosomal dominant traits?
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What happens to the trait transmission if a progeny is unaffected in autosomal dominant traits?
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How do sex-linked traits generally behave differently between males and females?
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In X-linked recessive traits, who is typically affected?
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What is the outcome for the offspring of an affected male with an X-linked recessive trait?
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For X-linked dominant traits, what is the outcome for the daughters and sons of an affected male?
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If a female is heterozygous for an X-linked dominant trait, what percentage of her children will be affected?
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What is the carrier probability of unaffected progeny in an autosomal recessive pedigree when parents are Aa?
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In the example where an X-linked recessive trait is passed down, what is the carrier probability for the next generation if no sons are affected?
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What theorem is used to update the probability of a genetic trait based on new data (e.g., unaffected sons)?
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What is the prior probability of a female being a carrier in a given pedigree?
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How does the probability change if she has one unaffected son?
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Name some human diseases with Mendelian inheritance.
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What are two types of sequencing used in studying Mendelian traits?
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Why is exome sequencing more efficient than whole-genome sequencing?
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What is P(A|B) in terms of dice rolling, if A = rolling a 2, 4, or 6 and B = rolling a 3 or 6?
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How do you compute P(A or B) when events overlap?
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What is the sample space in probability?
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Define an event in the context of probability and genetics.
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How is the probability of an event (e.g., inheriting an allele) expressed?
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What is the probability formula for an event occurring?
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When two genetic events are independent, how is the probability of both occurring calculated?
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When are two genetic events considered independent?
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What is conditional probability? Provide an example in genetics.
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How is conditional probability written mathematically?
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Provide an example of conditional probability in a genetic context.
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Why is Bayes' theorem important in genetic probability?
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State the formula for Bayes' theorem.
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In genetics, what does P(B|A) represent in a pedigree analysis?
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How is the probability of carrier status calculated for offspring in a pedigree?
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If two parents are carriers (Aa), what is the probability their child will be affected (aa)?
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If two parents are carriers (Aa), what is the probability their child will be a carrier (Aa)?
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How is the probability of not being affected or a carrier calculated when both parents are carriers (Aa)?
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Why do complex traits not follow simple Mendelian probabilities?
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How can twin studies help determine the genetic vs. environmental influence on a trait?
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What is the role of probability in genetic testing?
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How is probability applied in genetic linkage studies?
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What is the probability of inheriting a dominant genetic disorder if one parent is affected?
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How does probability change when both parents are carriers of a recessive disorder?
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When do you add probabilities in genetics?
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Provide an example of adding probabilities in genetics.
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What is the formula for adding probabilities in mutually exclusive events?
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When would you not add probabilities?
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What is Bayes' Theorem in simple terms?
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In genetics, what does Bayes' Theorem help determine?
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How does Bayes Theorem work step-by-step?
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What is a 'prior' in Bayes' Theorem?
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What is a 'posterior' probability in Bayes' Theorem?
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How does new evidence affect prior probability in Bayes' Theorem?
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State Bayes' Theorem formula.
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In genetics, what does P(A|B) represent?
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What does P(B) represent in Bayes' Theorem?
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What does P(A) represent in Bayes' Theorem?
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How are siblings represented in a pedigree?
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Define a 'relationship line' in a pedigree.
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Define 'line of descent' in a pedigree.
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What does a 'filled' symbol indicate in a pedigree?
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What does an 'empty' symbol indicate in a pedigree?
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What symbol indicates a deceased individual in a pedigree?
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How is heterozygosity sometimes symbolized in pedigrees?
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What does 'complete penetrance' mean in pedigree analysis?
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What assumption is made about outsiders marrying into a family with a rare trait?
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Why is it assumed there are no new mutations in a pedigree?
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What assumption is made about the pedigree itself?
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What is the primary goal of analyzing a pedigree?
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How do you start analyzing a pedigree?
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