[巴什基尔地区威尔逊-科诺瓦洛夫病患者多态性标记的突变与单倍型分析]

[Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir].

作者信息

Karunas A S, Mersiianova I V, Poliakov A V, Evgrafov O V, Khusnutdinova E K

机构信息

Department of Biochemistry and Cytology, Bashkir Scientific Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russia.

出版信息

Genetika. 2000 Jul;36(7):972-9.

PMID:10994503

Abstract

Mutations of the Wilson disease (WD) gene were studied in patients from Bashkortostan. Four mutations were identified: His1069Gln, 3402delC, Glu1064Lys, and 3559 + 1G-->T. The latter mutation was described for the first time. Mutation His1069Gln was found to be the most prevalent in Bashkortostan; its frequency was 43.5%. The associations of the mutations found with the haplotypes for polymorphic loci D13S316, D13S133, and D13S228 were studied. The mutations were found to be linked with specific haplotypes, and the study of polymorphic haplotypes can therefore facilitate the search for mutations in the gene for WD. The results of the molecular genetic study of WD can be used for direct and indirect DNA diagnostics of this disease in Bashkortostan.

摘要

对来自巴什科尔托斯坦的患者进行了威尔逊病（WD）基因突变研究。共鉴定出四种突变：His1069Gln、3402delC、Glu1064Lys和3559 + 1G→T。后一种突变是首次被描述。发现突变His1069Gln在巴什科尔托斯坦最为常见，其频率为43.5%。研究了所发现的突变与多态性位点D13S316、D13S133和D13S228单倍型的关联。发现这些突变与特定单倍型相关联，因此对多态性单倍型的研究有助于在WD基因中寻找突变。WD分子遗传学研究结果可用于巴什科尔托斯坦该疾病的直接和间接DNA诊断。