A genetic variant is associated with high penetrance and low expressivity. This means the variant is associated with a: Question 15 options: High chance of showing disease symptoms and the disease is caused by a rare mutation. High chance of showing disease symptoms but the symptoms will be mild. Low chance of showing disease symptoms and the symptoms will be mild. High chance of showing disease symptoms and the symptoms will be severe. Low chance of showing disease symptoms but the symptoms will be severe.

A genetic variant is associated with high penetrance and low expressivity. This means the variant is associated with a: Question 15 options: High chance of showing disease symptoms and the disease is caused by a rare mutation. High chance of showing disease symptoms but the symptoms will be mild. Low chance of showing disease symptoms and the symptoms will be mild. High chance of showing disease symptoms and the symptoms will be severe. Low chance of showing disease symptoms but the symptoms will be severe.

Name: A genetic variant is associated with high penetrance and low expressiv
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Description: A genetic variant is associated with high penetrance and low expressivity. This means the variant is associated with a: Question 15 options: High chance of showing disease symptoms and the disease is caused by a rare mutation. High chance of showing

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter16: Reproductive Technology, Genetic Testing, And Gene Therapy

Section: Chapter Questions

Problem 18QP

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define the term name as Missense mutations
Cystic fibrosis (CF) is a genetic disorder affecting a number of organs, including the lung airways, pancreas, and sweat glands. Mutations in both copies of the CFTR gene causes cystic fibrosis. Imagine that you have sweat gland samples from several Cystic Fibrosis patients (A-C) with unknown mutations in CFTR. You also have normal (+) sweat gland sample to use as a positive control. А В С А В С Choose which mutation would explain the RNA and protein results in A, B, & C: 1. Promoter/Regulatory mutation 2. Silent mutation 3. Missense mutation 4. Deletion mutation 5. Splice site mutation 6. Nonsense mutation RNA gel Protein gel
As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?
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	High chance of showing disease symptoms and the disease is caused by a rare mutation.
	High chance of showing disease symptoms but the symptoms will be mild.
	Low chance of showing disease symptoms and the symptoms will be mild.
	High chance of showing disease symptoms and the symptoms will be severe.
	Low chance of showing disease symptoms but the symptoms will be severe.