Chapter 5 Multiple choice questions

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What is linkage analysis? Select correct answer.

A method that uses pedigree information to find the location in the genome of genetic mutations correct incorrect

A description of the correlation between disease and genetic variation correct incorrect

A way to find genes that cause disease correct incorrect

A method for identifying mutations that employs linkage disequilibrium in populations correct incorrect

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What are the characteristics of dominant inheritance? Select all correct answers.

Roughly equal numbers of each generation are affected correct incorrect

In each generation at least one family member is affected correct incorrect

Males and females are equally affected correct incorrect

The location of mutations cannot be detected by linkage analysis correct incorrect

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What are the characteristics of recessive inheritance? Select all correct answers.

Recessive mutations are rarer than dominant mutations in a population correct incorrect

In an affected pedigree, in each generation every individual will be either a carrier of the mutation, or will manifest the disease correct incorrect

Linkage analysis is an efficient way to find the location of the mutation correct incorrect

Variable penetrance can obscure the recognition of a recessive pattern of inheritance correct incorrect

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What are the features of recombination? Select all correct answers.

Recombination only occurs between pairs of the same chromosome correct incorrect

The sex chromosomes never recombine correct incorrect

Linkage mapping relies on recombination to identify the location of a mutation on a chromosome correct incorrect

Its function is to randomly distribute genetic variation to the next generation correct incorrect

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How is linkage disequilibrium defined? Select correct answer.

The random segregation of two genetic variants in a pedigree correct incorrect

A side effect of recombination correct incorrect

The non-random association of two or more alleles at two or more loci correct incorrect

The non-random association of two or more alleles at loci on different chromosomes correct incorrect

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For which of the following diseases has linkage analysis been useful in identifying genes? Select all correct answers.

Language disorder correct incorrect

Depression correct incorrect

Huntington's disease correct incorrect

Schizophrenia correct incorrect

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What is used to perform a genetic association analysis of a disease? Select all correct answers.

Genetic variants in one or more candidate genes correct incorrect

A large number of unrelated individuals who all have the disease under study correct incorrect

A disease that arises from multiple genetic variants correct incorrect

The application of a statistical test to determine whether the frequency of an allele is higher in a group of cases compared to controls correct incorrect

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Which of the following are examples of genetic association analyses? Select all correct answers.

Variation in allele frequency of a functional polymorphism in the BDNF gene and memory acquisition in a population of unrelated individuals correct incorrect

Variation in allele frequency of a DNA polymorphism of unknown function and the risk of alcoholism in a population of unrelated individuals correct incorrect

Variation in an anonymous marker segregating in a family with dementia correct incorrect

Genetic variants on the X chromosome and the age of onset of movement disorder in subjects with Huntington's disease correct incorrect

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Why were candidate gene association studies unsuccessful? Select all correct answers.

Background genetic effects obscured the association between markers and disease correct incorrect

The influence of the environment was not adequately taken into account correct incorrect

Sample sizes were too small correct incorrect

Genetic data were not analysed with sufficient rigor correct incorrect

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What was established from candidate gene association studies about the genetic basis of behavior in humans? Select correct answer.

Candidate gene association studies demonstrated that genes and environments interact correct incorrect

Candidate gene association studies demonstrated that the serotonin transporter contributes to variation in personality and to the risk of developing depression correct incorrect

Candidate gene association studies demonstrated that genetic variants in dopamine receptors contribute to the risk of schizophrenia correct incorrect

Nothing of consequence correct incorrect

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What is an endophenotype? Select all correct answers.

A construct that sits between a disease or behavior and its genetic basis correct incorrect

A trait that is believed to be closer to the site of genetic action than a disease correct incorrect

A phenotype that is hidden from the individual in whom it is being measured correct incorrect

A biological marker that contributes to variation in the presentation of a disease correct incorrect