Human Genetic Diversity: Mutations and Polymorphisms

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What is responsible for the genetically determined variability among humans?

Genetically determined phenotypic variability

Sequence of nuclear DNA (correct)

Chromosome number alterations

Variation in mitochondrial DNA

Which type of DNA sequence differences have little or no effect on phenotype?

Variation in mitochondrial DNA

Genetically determined phenotypic variability

Chromosome number alterations

Small fraction of different DNA sequences (correct)

What is responsible for causing disease in humans?

Changes in DNA sequence of individual genes (correct)

Changes in mitochondrial genomes

Chromosome number alterations

Genetically determined phenotypic variability

What do gene mutations alter?

Individual genes Signup and view all the answers

What is nearly 99.9% identical between any two humans?

Sequence of nuclear DNA Signup and view all the answers

Which type of mutation may lead to the formation of a variant protein with altered properties?

A single nucleotide substitution in a DNA sequence Signup and view all the answers

What is the term for mutations occurring in cancer and cannot be transmitted?

Somatic mutations Signup and view all the answers

What mechanism introduces errors during the normal process of DNA replication?

Failure to repair DNA after damage Signup and view all the answers

Which type of DNA changes are usually corrected through proofreading mechanisms?

Errors introduced during the normal process of DNA replication Signup and view all the answers

What percentage of replication errors are corrected by a series of DNA repair enzymes?

99.9% Signup and view all the answers

What is responsible for the genetically determined variability among humans?

Small fraction of DNA sequence differences Signup and view all the answers

Which type of DNA changes may have little or no effect on phenotype?

Large amounts of base changes Signup and view all the answers

What process alters chromosome number, structure, or individual genes?

Gene mutations Signup and view all the answers

Which type of DNA sequence differences are directly responsible for causing disease?

Gene mutations Signup and view all the answers

Which type of mutation may lead to complete loss of expression of a gene or the formation of a variant protein with altered properties?

Missense mutation Signup and view all the answers

What is the term for mutations that occur in cells that will populate the germline and are usually inherited?

Germline mutations Signup and view all the answers

What mechanism is responsible for correcting more than 99.9% of errors of DNA replication?

Proofreading mechanisms Signup and view all the answers

What are the two basic mechanisms of gene mutations?

Error during DNA replication and DNA repair failure Signup and view all the answers

Which type of DNA changes is usually corrected through proofreading mechanisms?

Replication-related DNA changes Signup and view all the answers

Human Genetic Diversity: Mutations and Polymorphisms

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Questions and Answers

What is responsible for the genetically determined variability among humans?

Which type of DNA sequence differences have little or no effect on phenotype?

What is responsible for causing disease in humans?

What do gene mutations alter?

What is nearly 99.9% identical between any two humans?

Which type of mutation may lead to the formation of a variant protein with altered properties?

What is the term for mutations occurring in cancer and cannot be transmitted?

What mechanism introduces errors during the normal process of DNA replication?

Which type of DNA changes are usually corrected through proofreading mechanisms?

What percentage of replication errors are corrected by a series of DNA repair enzymes?

What is responsible for the genetically determined variability among humans?

Which type of DNA changes may have little or no effect on phenotype?

What process alters chromosome number, structure, or individual genes?

Which type of DNA sequence differences are directly responsible for causing disease?

Which type of mutation may lead to complete loss of expression of a gene or the formation of a variant protein with altered properties?

What is the term for mutations that occur in cells that will populate the germline and are usually inherited?

What mechanism is responsible for correcting more than 99.9% of errors of DNA replication?

What are the two basic mechanisms of gene mutations?

Which type of DNA changes is usually corrected through proofreading mechanisms?

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