Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population

In apparently healthy, unrelated Hungarians we examined triplet repeat length polymorphism at Huntington disease (HD), spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA-1), dentatorubral-pallidoluysian 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 M, 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 Caucasians. No significant differences were found in alleles at the MD and also at the HD loci compared with the other groups. These findings suggest that these trinucleotide sites in combination with other markers are particularly useful for determination of the genetic origin of a population, if they can be compared with similar subset of data of other populations. The present results could not confirm the large genetic distance between Hungarian and Oriental 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: Akadémiai Kiadó. p 82-334].