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Eur J Hum Genet ; 9(11): 829-35, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11781699

RESUMO

A normal polymorphism at three triplet repeat loci (myotonic dystrophy (DM), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 1 (SCA1)) were examined in healthy unrelated individuals from the Siberian Yakut (Mongoloid) population, the Adygei (Caucasian) population and nine East European populations: populations from Russia (Holmogory, Oshevensk, Kursk, Novgorod, Udmurts, Bashkir), two Ukrainian populations (Lviv and Alchevsk) and one Belarussian. The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)5 and (CTG)11-14, but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied. Higher heterozygosity levels and insignificant differences between expected and observed heterozygosity were found for all tested loci. The latter led us to suggest that the trinucleotide repeat loci analysed are not influenced by selection factors and could be useful for genetic relationship investigations in different populations.


Assuntos
Proteínas Serina-Treonina Quinases , Proteínas/genética , Expansão das Repetições de Trinucleotídeos/genética , Repetições de Trinucleotídeos/genética , Alelos , Ataxina-1 , Ataxinas , DNA/genética , Europa Oriental , Frequência do Gene , Geografia , Humanos , Miotonina Proteína Quinase , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Filogenia , Polimorfismo Genético
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