In apparently healthy, unrelated Hungarians we examined triplet repeat leng
th polymorphism at Huntington disease (HD), spinal and bulbar muscular atro
phy (SBMA), spinocerebellar ataxia type 1 (SCA-1), dentatorubral-pallidoluy
sian atrophy (DRPLA), and myotonic dystrophy (MD) loci. The distribution of
alleles of the SCA-1 locus was markedly different compared with Asians and
Caucasian samples examined by Watkins WS, Bamshad NI, and Jorde LB [1995:
Hum Mol Genet 4:1485-1491]. The unimodal distribution of peaks was shifted
towards the shorter repeats on the average with 4-5 repeats, Alleles under
21 repeats at the SBMA locus were significantly less frequent in Hungarians
than in Asians and Caucasians. We also found significant difference in the
distribution of DRPLA allele size at repeat length over 15 repeats; these
alleles were less frequent in Hungarians compared with Asians and Caucasian
s. No significant differences were found in alleles at the MD and also at t
he HD loci compared with the other groups. These findings suggest that thes
e trinucleotide sites in combination with other markers are particularly us
eful for determination of the genetic origin of a population, if they can b
e compared with similar subset of data of other populations. The present re
sults could not confirm the large genetic distance between Hungarian and Or
iental races and the relatively short distance between Hungarian and other
European populations suggested in earlier reports [Czeizel A, Benkmann H-G;
, Goedde HW, editors. 1991: Genetics of the Hungarian population. Budapest:
Akademiai Kiado. p 82-334], Am, J, Med, Genet, 87:245-250, 1999, (C) 1999
Wiley-Liss, Inc.