Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

doi:10.1093/hmg/8.2.173

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Article

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

Human molecular genetics - 1 Feb 1999

Leeflang E P, Tavaré S, Marjoram P, Neal C O, Srinidhi J, MacFarlane H, MacDonald M E, Gusella J F, de Young M, Wexler N S, Arnheim N

Abstract excerpt

Trinucleotide repeat disease alleles can undergo 'dynamic' mutations in which repeat number may change when a gene is transmitted from parent to offspring. By typing >3500 sperm, we determined the size distribution of Huntington's disease (HD) germline mutations produced by 26 individuals from the Venezuelan cohort with CAG/CTG repeat numbers ranging from 37 to 62. Both the mutation frequency and mean change in...

Topics

Adolescent
Adult
Aged
Alleles
Cohort Studies
DNA
Family Health
Genes
Germ-Line Mutation
Humans
Huntington Disease
Male
Middle Aged
Mitosis

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Biological

Spermatozoa

Trinucleotide Repeat Expansion

Trinucleotide Repeats

Source

Open in PubMed

Identifiers

PMID: 9931325
DOI: 10.1093/hmg/8.2.173

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