LHS Genetic Disorders Flashcard

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What is a chromosomal mutation?

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A chromosomal mutation is a change in the structure or number of chromosomes, which can lead to genetic disorders.

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What are the types of chromosomal mutations?

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The main types of chromosomal mutations include deletion, duplication, inversion, and translocation.

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What is a duplication mutation?

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A duplication mutation occurs when a segment of DNA is copied, resulting in extra genetic material.

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What is a frameshift mutation?

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A frameshift mutation is caused by the addition or deletion of DNA bases, which shifts the reading frame of the genetic code.

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What is a base substitution mutation?

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A base substitution mutation occurs when one base in the DNA sequence is replaced by another, potentially altering the resulting protein.

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What is a gene mutation?

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A gene mutation is a permanent alteration in the DNA sequence that makes up a gene.

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What is a substitution mutation?

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A substitution mutation is a type of gene mutation where one base pair is replaced by another base pair.

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What is a deletion mutation?

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A deletion mutation involves the loss of a segment of DNA, which can result in a loss of function of the gene.

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What is an insertion mutation?

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An insertion mutation occurs when one or more nucleotide bases are added into a DNA sequence.

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What is translocation in genetics?

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Translocation is a chromosomal mutation where a segment of one chromosome breaks off and attaches to another chromosome.