波兰人群及克雅氏病中PRNP基因的分子分析

Molecular analysis of PRNP gene in Polish population and in Creutzfeldt-Jakob disease.

作者信息

Bratosiewicz J, Kordek R, Kulczycki J, Botts G, Liberski P P

机构信息

Department of Molecular Biology, School of Medicine, Lódź.

出版信息

Folia Neuropathol. 1999;37(4):277-80.

PMID:10705652

Abstract

In our study we have examined allelic variation of codon 129 among the Polish population as well as Polish and Dutch CJD cases. The open reading frame of the PrP gene was amplified using the polymerase chain reaction (PCR). PCR product was digested with Nsp I and Mae II endonucleases and separated by 2% agarose gel electrophoresis and, finally, sequenced by the Sanger dideoxy-mediated chain-termination method. To obtain population data we have screened 109 unrelated Polish adults. There were 45% of methionine homozygotes, 16% of valine homozygotes and 3% of heterozygotes. Among Polish CJD cases, 75% were methionine homozygous, 12.5% were valine homozygous and 12.5% were heterozygous, whereas among Dutch CJD cases it was 29% of Met/Met and 71% of Met/Val genotypes.

摘要

在我们的研究中，我们检测了波兰人群以及波兰和荷兰克雅氏病（CJD）病例中第129密码子的等位基因变异。使用聚合酶链反应（PCR）扩增朊蛋白（PrP）基因的开放阅读框。PCR产物用Nsp I和Mae II核酸内切酶消化，通过2%琼脂糖凝胶电泳分离，最后采用桑格双脱氧介导的链终止法进行测序。为了获得人群数据，我们筛查了109名无关的波兰成年人。其中甲硫氨酸纯合子占45%，缬氨酸纯合子占16%，杂合子占3%。在波兰克雅氏病病例中，75%为甲硫氨酸纯合子，12.5%为缬氨酸纯合子，12.5%为杂合子；而在荷兰克雅氏病病例中，Met/Met基因型占29%，Met/Val基因型占71%。