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WK 5: Genetics 3: Mutations and Pedigrees

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30 Questions

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

Chromosomal rearrangement

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

Triploid

What is the function of the centromere in a chromosome?

To attach spindle fibers

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

Aneuploidy

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

Chromosomal rearrangement

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

Haploid

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

Polyploid

What is the outcome of trisomy 21?

Near-normal life expectancy with many deleterious effects

What is the purpose of crossing over in meiosis?

To increase genetic variation

What type of mutation can occur due to chromosomal rearrangements?

Gene deletion

What is the result of a chromosomal rearrangement in humans?

Changes to chromosome set copy number

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

Nonsense mutation

What is the result of nondisjunction during meiosis?

Aneuploidy

What is the purpose of a pedigree in genetics?

To map genetic disease/disorder throughout a family tree

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

To regulate the expression of the gene

What is a characteristic of Robertsonian translocation?

Unequal exchange between non-homologous chromosomes

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

Deletion of genetic material

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

Non-disjunction

What is the result of an unbalanced reciprocal translocation?

Loss of genetic material

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

Frameshift mutation

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

Robertsonian translocation

What is the primary mechanism of evolution?

Mutation

What type of mutation introduces a stop codon?

Nonsense mutation

What is the purpose of a pedigree in genetics?

To determine the inheritance pattern of a genetic disorder

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?

The reading frame of the gene is altered

Which type of mutation adds or deletes a codon?

Inframe mutation

What is the purpose of analyzing a pedigree in genetics?

All of the above

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

A single amino acid is changed

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

Wild-type allele

Test your knowledge of genetics, mutations, and pedigrees with this quiz. Learn about the principles of genetics and how they apply to real-world scenarios. Suitable for students of genetics and biology.

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