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Chapter 12: Problem 13

How can short repeats within a gene, long triplet repeats within a gene, and repeated genes cause disease?

Short Answer

Expert verified
Genetic diseases can be caused by short repeats, long triplet repeats, and repeated genes due to the instability and mutations they cause in the genes. These mutations can lead to the production of irregular proteins, resulting in imbalances and disruptions in cellular functions.

Step by step solution

01

Understanding Genes and Diseases

Genes are made up of DNA and are responsible for instructing cells on how to make proteins that maintain body functions. When abnormal repeats occur within these genes, it can severely disrupt these instructions, leading to diseases.
02

Short Repeats Within a Gene

Short repeats within a gene, also known as short tandem repeats (STRs) or microsatellites, are a repeating sequence of 2 to 5 base pairs. Unusual numbers of these repeats can lead to the expansion of such regions, causing instability and mutation of the gene, leading to genetic disorders.
03

Long Triplet Repeats Within a Gene

Long Triplet Repeats within a gene is when a sequence of three nucleotides is repeated an abnormally high number of times. This phenomenon can result in a production of abnormal proteins that can lead to neurological and neuromuscular disorders like Huntington's disease and Fragile X syndrome.
04

Repeated Genes

Repeated genes are multiple copies of the same gene present in a genome. The presence of these additional copies can lead to the overproduction of proteins, which can cause imbalances and disruptions in cellular functions, thereby causing disease.

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Most popular questions from this chapter

How does a copy number variant differ from a missense mutation?

Distinguish between a germline and a somatic mutation.

Describe a pair of allelic disorders.

How can a mutation that retains an intron's sequence and a triplet repeat mutation have a similar effect on a gene's encoded protein?

How is a human body a genomic mosaic?
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