Human Molecular Genetics, Vol 5, 373-379, Copyright © 1996 by Oxford University Press
H Yanagisawa, K Fujii, S Nagafuchi, Y Nakahori, Y Nakagome, A Akane, M Nakamura, A Sano, O Komure, I Kondo, DK Jin, SA Sorensen, NT Potter, SR Young, K Nakamura, N Nukina, Y Nagao, K Tadokoro, T Okuyama, T Miyashita, T Inoue, I Kanazawa and M Yamada
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant
neurodegenerative disorder associated with the expansion of a CAG repeat at
chromosome band 12p13. Epidemiological studies have demonstrated an
increased prevalence of DRPLA in Japan, although several DRPLA kindreds of
non-Japanese ancestry have been identified. To define the molecular basis
for this geographic variation in prevalence, we have analyzed haplotypes
around the repeat in several different ethnic groups. Two intragenic
biallelic polymorphisms distinguished three haplotypes, each of which
formed a predominant haplotype found in the three major racial populations.
All the expanded repeats of Japanese and Caucasian patients studied were
associated with a particular haplotype, which otherwise was associated with
longer repeats commonly found in Asians. Our results support a multi-step
model for repeat expansion, and suggest that expanded DRPLA repeats may
have evolved from an ancient chromosomal haplotype of Asian origin. We also
propose that a combination of a highly polymorphic microsatellite marker
with relatively stable biallelic markers in a range of PCR amplification is
a powerful tool for studies on human genome diversity, which may reveal the
ancient human migration and the formation of ethnic groups.
ARTICLES
A unique origin and multistep process for the generation of expanded DRPLA triplet repeats
National Children's Medical Research Center, Tokyo, Japan.
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