WK 5: Genetics 3: Mutations and Pedigrees

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What is the result of an alteration in the copy number of a complete set of chromosomes?

Chromosomal rearrangement (correct)

Polyploidy

Aneuploidy

Gene mutation

What is the term for a cell having three sets of chromosomes?

Haploid

Diploid

Triploid (correct)

Aneuploid

What is the function of the centromere in a chromosome?

To attach spindle fibers (correct)

To regulate gene expression

To stain chromosomes

To synthesize proteins

What is the result of an error during meiosis that leads to a change in the number of chromosomes in a cell?

Aneuploidy Signup and view all the answers

What is the term for a change in the structure of an individual chromosome?

Chromosomal rearrangement Signup and view all the answers

What is the term for a cell having a single set of chromosomes?

Haploid Signup and view all the answers

What is the term for a cell having more than two sets of chromosomes?

Polyploid Signup and view all the answers

What is the outcome of trisomy 21?

Near-normal life expectancy with many deleterious effects Signup and view all the answers

What is the purpose of crossing over in meiosis?

To increase genetic variation Signup and view all the answers

What type of mutation can occur due to chromosomal rearrangements?

Gene deletion Signup and view all the answers

What is the result of a chromosomal rearrangement in humans?

Changes to chromosome set copy number Signup and view all the answers

What type of mutation is a change in a single nucleotide that results in a premature stop codon?

Nonsense mutation Signup and view all the answers

What is the result of nondisjunction during meiosis?

Aneuploidy Signup and view all the answers

What is the purpose of a pedigree in genetics?

To map genetic disease/disorder throughout a family tree Signup and view all the answers

What is the function of the promoter and upstream regulatory elements in a gene?

To regulate the expression of the gene Signup and view all the answers

What is a characteristic of Robertsonian translocation?

Unequal exchange between non-homologous chromosomes Signup and view all the answers

What is the result of a non-reciprocal translocation during meiosis?

Deletion of genetic material Signup and view all the answers

What is the term for the incorrect alignment of homologous chromosomes during meiosis?

Non-disjunction Signup and view all the answers

What is the result of an unbalanced reciprocal translocation?

Loss of genetic material Signup and view all the answers

What is the type of mutation that results in a change in the reading frame of a gene?

Frameshift mutation Signup and view all the answers

What is the term for the fusion of two non-homologous chromosomes?

Robertsonian translocation Signup and view all the answers

What is the primary mechanism of evolution?

Mutation Signup and view all the answers

What type of mutation introduces a stop codon?

Nonsense mutation Signup and view all the answers

What is the purpose of a pedigree in genetics?

To determine the inheritance pattern of a genetic disorder Signup and view all the answers

What symbol is used to represent a female in a pedigree?

Signup and view all the answers

What is the effect of a frameshift mutation on the protein produced by a gene?

The reading frame of the gene is altered Signup and view all the answers

Which type of mutation adds or deletes a codon?

Inframe mutation Signup and view all the answers

What is the purpose of analyzing a pedigree in genetics?

All of the above Signup and view all the answers

What is the effect of a missense mutation on the protein produced by a gene?

A single amino acid is changed Signup and view all the answers

What is the term for the most common version of a gene in a population?

Wild-type allele Signup and view all the answers

WK 5: Genetics 3: Mutations and Pedigrees

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Questions and Answers

What is the result of an alteration in the copy number of a complete set of chromosomes?

What is the term for a cell having three sets of chromosomes?

What is the function of the centromere in a chromosome?

What is the result of an error during meiosis that leads to a change in the number of chromosomes in a cell?

What is the term for a change in the structure of an individual chromosome?

What is the term for a cell having a single set of chromosomes?

What is the term for a cell having more than two sets of chromosomes?

What is the outcome of trisomy 21?

What is the purpose of crossing over in meiosis?

What type of mutation can occur due to chromosomal rearrangements?

What is the result of a chromosomal rearrangement in humans?

What type of mutation is a change in a single nucleotide that results in a premature stop codon?

What is the result of nondisjunction during meiosis?

What is the purpose of a pedigree in genetics?

What is the function of the promoter and upstream regulatory elements in a gene?

What is a characteristic of Robertsonian translocation?

What is the result of a non-reciprocal translocation during meiosis?

What is the term for the incorrect alignment of homologous chromosomes during meiosis?

What is the result of an unbalanced reciprocal translocation?

What is the type of mutation that results in a change in the reading frame of a gene?

What is the term for the fusion of two non-homologous chromosomes?

What is the primary mechanism of evolution?

What type of mutation introduces a stop codon?

What is the purpose of a pedigree in genetics?

What symbol is used to represent a female in a pedigree?

What is the effect of a frameshift mutation on the protein produced by a gene?

Which type of mutation adds or deletes a codon?

What is the purpose of analyzing a pedigree in genetics?

What is the effect of a missense mutation on the protein produced by a gene?

What is the term for the most common version of a gene in a population?

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