26. Many different mutations (>1500 to date) in the CFTR gene can cause Cystic Fibrosis (CF). The disease shows allelic heterogeneity and many CF sufferers are compound heterozygotes i.e. they have two different mutations, one in each of their copies of the CFTR gene. -1 in 25 people in Australia are carriers for CF (an autosomal recessive disease). DNA ests are used to detect CF mutations in carriers but it is too expensive to test, or screen for all mutations so only the most common mutations are tested for. A typical CF carrier screen s 90% accurate, i.e. 10% of mutations are missed by the screen. a. Use Bayesian Analysis to calculate the probability that a woman who: a) has no family history of CF; and b) tests negative (negative means no mutation is found) on a mutation screen, is a carrier. Provide answers to 3 decimal places. Scenario A woman is a carrier Scenario B woman is not a carrier Prior Probability Cond. Probability Joint probability Posterior probability b. If this woman's partner is a known carrier for CF, the probability that the couple's first child will have CF (to three decimal places):
26. Many different mutations (>1500 to date) in the CFTR gene can cause Cystic Fibrosis (CF). The disease shows allelic heterogeneity and many CF sufferers are compound heterozygotes i.e. they have two different mutations, one in each of their copies of the CFTR gene. -1 in 25 people in Australia are carriers for CF (an autosomal recessive disease). DNA ests are used to detect CF mutations in carriers but it is too expensive to test, or screen for all mutations so only the most common mutations are tested for. A typical CF carrier screen s 90% accurate, i.e. 10% of mutations are missed by the screen. a. Use Bayesian Analysis to calculate the probability that a woman who: a) has no family history of CF; and b) tests negative (negative means no mutation is found) on a mutation screen, is a carrier. Provide answers to 3 decimal places. Scenario A woman is a carrier Scenario B woman is not a carrier Prior Probability Cond. Probability Joint probability Posterior probability b. If this woman's partner is a known carrier for CF, the probability that the couple's first child will have CF (to three decimal places):
Biology (MindTap Course List)
11th Edition
ISBN:9781337392938
Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg
Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg
Chapter16: Human Genetics And The Human Genome
Section16.3: Genetic Diseases Caused By Single-gene Mutations
Problem 7LO: State whether each of the following genetic defects is inherited as an autosomal recessive,...
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