Patterns of instability of expanded CAG repeats at the ERDA1 (ital) locus in general populations
Article Abstract:
Expansion and instability of trinucleotide repeats are not necessarily associated with disease, based on recent research. Implications of the existence of greatly expanded alleles in general populations are not know. Patterns of instability of expanded CAG repeats have been studied at the ERDA1 (ital) locus on 17q21.3 in rive human populations. Mutation patterns were characterized. Alleles were found to be as large as 50-90 repeats with no disease association. High intergenerational instability of large alleles was found. Paternal transmissions mainly result in contractions, but the mutation rate is not dependent on parental sex, and maternal transmissions gave expansions. Ethnic differences occur.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Estimating African American admixture proportions by use of population-specific alleles
Article Abstract:
African American genetic makeup and European admixture proportions estimated using population-specific alleles in 8 cities of the US and 2 in Jamaica are discussed with emphasis on importance of admixed populations as a useful resource for mapping traits with different prevalence in two parental populations. Male and female European contribution to African Americans was estimated based on informative mtDNA and Y Alu polymophic markers with the male contribution found to be substantially higher than that for females, while no significant maternal Amerindian contribution was found using mtDNA haplogroups analysis.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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