Question 1
In a population at Hardy-Weinberg equilibrium, the frequency of an autosomal recessive disease allele is 0.02. What is the expected carrier frequency among the population (approximate)?
Correct Answer:
About 1 in 25
Question 2
A rare autosomal recessive disorder has a markedly elevated carrier frequency in an isolated island population compared with surrounding regions. Which population-genetics process best explains this pattern?
Correct Answer:
Founder effect
Question 3
Different pathogenic variants in the same gene cause a clinically similar phenotype in unrelated families. Which term best describes this?
Correct Answer:
Allelic heterogeneity
Question 4
A disorder is expressed only when the pathogenic variant is inherited from the father, and methylation studies show parent-of-origin-specific silencing. Which inheritance mechanism is most consistent?
Correct Answer:
Genomic imprinting
Question 5
A pathogenic autosomal dominant variant is present in multiple relatives, but some carriers never develop clinical features. What concept best explains this?
Correct Answer:
Incomplete penetrance
Question 1
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About this Exam

Prepare with the CBGC Genetic Counselling Certification (CCGC) Practice Questions - Canadian Board of Genetic Counselling Certification Examination (CCGC CGAC) Exam practice quiz. This question bank includes 100 questions covering variant, pathogenic, counseling, child, and carrier. Use it to review important concepts, identify knowledge gaps, and build confidence for the related exam, course, or assessment.

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CBGC Genetic Counselling Certification (CCGC) Practice Questions - Canadian Board of Genetic Counselling Certification Examination (CCGC CGAC) Exam

This practice set contains 100 questions from the matching question bank and focuses on variant, pathogenic, counseling, child, and carrier. Work through each question carefully, review the provided solutions, and revisit topics that need more study before your next attempt.

This is an independent study resource intended for practice and review; it is not an official examination or an endorsement by any organization named in the title.

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