Trinucleotide Repeat Polymorphisms of SBMA Locus in Koreans Chinese, Japanese and Caucasoids / 체질인류학회지

SBMA (Spinal bulbar muscular atrophy) is a neurodegenerative disease and the extension of the triplet repeat DNA tracks on this SBMA locus is related with the onset of the genetic disease. In this study we investigated the PCR -based STRs (Short Tandem Repeats) polymorphisms for the SBMA locus in healthy South Koreans, Chinese, Japanese and Caucasoids. As the result, we could detect the significant differences among the four populations. And the allele distribution of each population was single modal. The CAG alleles of South Koreans and Chinese showed very similar distributions each other, but the distribution of CAG alleles in Japanese population was clsoer to the one of Caucasoids. The T test after doing the F test also detected the significant difference reflecting this similarity between Japanese and Caucasoids.

Dentatorubropallidoluysian atrophy in a korean family

Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited with autosomal dominant pattern, which has been mostly described in reports from Japan. Recently, DRPLA proved to be associated with an expanded CAG nucleotide report in a gene on chromosome 12p. We report the first Korean family with this mutation, which was confirmed by genetic analysis. Case History : A 34 year-old man present ad with a 5 year history of clumsiness, seizures, and gait ataxia. He had dysarthria, clumsiness of hands, gait ataxia and intermittent choreic movements in both arms. There was mild cognitive impairment. EEG showed intermittent generalized slowing, and brain MRI revealed diffuse cerebral and cerebellar atrophy with enlarged 4th ventricle. There were three other affected family members; his 37-year old sister presented with choreiform movements developed at the age of 31. His father and uncle were reported to have been ataxic during the late period of their life, who died at age of 65 and 40 respectively. DNA studies of the prebend and his sister confirmed CAG repeat expansiom in the DRPLA gene, the size of which was 64 and 66, respectively. CONCLUSION: This is the first Korean family with DRPLA, and it should be considered in any patients with inherited neurodegenerative disorder with the above-mentioned clinical features