The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.

doi:10.1002/ajmg.b.32618

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Article

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2018

Kay Chris, Collins Jennifer A, Wright Galen E B, Baine Fiona, Miedzybrodzka Zosia, Aminkeng Folefac, Semaka Alicia J, McDonald Cassandra, Davidson Mark, Madore Steven J, Gordon Erynn S, Gerry Norman P, Cornejo-Olivas Mario, Squitieri Ferdinando, Tishkoff Sarah, Greenberg Jacquie L, Krause Amanda, Hayden Michael R

Abstract excerpt

Huntington disease (HD) is the most common monogenic neurodegenerative disorder in populations of European ancestry, but occurs at lower prevalence in populations of East Asian or black African descent. New mutations for HD result from CAG repeat expansions of intermediate alleles (IAs), usually of paternal origin. The differing prevalence of HD may be related to the rate of new mutations in a population, but no...

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PMID: 29460498
DOI: 10.1002/ajmg.b.32618

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