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Copy number variations may involve which of the following?

a) Changes in chromosomal structure
b) Alterations in the number of genes
c) Mutations in mitochondrial DNA
d) Epigenetic modifications

User Smulldino
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Final answer:

Copy number variations may involve changes in chromosomal structure and alterations in the number of genes but typically do not include mutations in mitochondrial DNA or epigenetic modifications. Option A is correct.

Step-by-step explanation:

Copy number variations (CNVs) represent changes in the genome that can impact genetic health and can involve:

Changes in chromosomal structure such as deletions, duplications, inversions, and translocations.

Alterations in the number of genes, where portions of the genome are copied (resulting in extra copies of genes) or deleted (resulting in fewer copies).

CNVs do not typically include mutations in mitochondrial DNA (mtDNA) or epigenetic modifications, as these do not change the copy number of genes in the chromosomes. Mutations in mtDNA affect the mitochondria's genetic information, which is inherited maternally and separate from chromosomal DNA. Epigenetic modifications involve changes in gene expression without altering the underlying DNA sequence.

Copy number variations can involve changes in chromosomal structure and alterations in the number of genes. Chromosomal alterations occur when a section of a chromosome breaks off and rejoins incorrectly or does not rejoin at all. These mutations can result in serious consequences for the organism, such as developmental delays and abnormalities like Down Syndrome.

User Akf
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