波兰患者异染性脑白质营养不良的分子基础。

Molecular bases of metachromatic leukodystrophy in Polish patients.

机构信息

Department of Genetics, Institute of Psychiatry and Neurology, Al Sobieskiego 9, Warsaw, Poland.

出版信息

J Hum Genet. 2010 Jun;55(6):394-6. doi: 10.1038/jhg.2010.25. Epub 2010 Mar 26.

DOI:10.1038/jhg.2010.25

PMID:20339381

Abstract

Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A). Subsequently, we reported six additional mutations jointly accounting for 10% of mutated alleles. Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles. We have not identified any frequent mutation in the ARSA gene, which would be typical or unique for Polish patients. In this report, we describe the results of this and summarize the results of this and our previous studies.

摘要

我们对 43 名患有不同类型脑苷脂沉积病（MLD）的波兰无关个体的初步研究显示，ARSA 基因突变中，四个突变占突变等位基因的 55%（c.459+1G>A，p.P426L，p.I179S 和 c.1204+1G>A）。随后，我们报道了另外六个共同占突变等位基因 10%的突变。对波兰 MLD 患者的 ARSA 基因 DNA 样本进行进一步的序列分析，揭示了 10 个等位基因上的 8 个罕见突变：p.R390W、p.E382K、p.R390Q、p.R288C、p.H397Y、p.F247S、p.D335V 和 g.561_562insC，它们共同占检测到的等位基因的 12%。我们没有发现 ARSA 基因中的任何常见突变，这些突变在波兰患者中是典型的或独特的。在本报告中，我们描述了这一结果，并总结了这一和我们以前研究的结果。