在两名不相关的意大利戈谢病患者中，葡萄糖脑苷脂酶基因第10外显子最后一个核苷酸处发生了罕见的G6490→A替换。

A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

作者信息

Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R

机构信息

III Divisione Pediatrica, Istituto G. Gaslini, Genova, Italy.

出版信息

Clin Genet. 1995 Sep;48(3):123-7. doi: 10.1111/j.1399-0004.1995.tb04070.x.

DOI:10.1111/j.1399-0004.1995.tb04070.x

PMID:8556817

Abstract

Mutation screening of the glucocerebrosidase gene by SSCP analysis revealed an abnormal pattern of exon 10 in two unrelated Italian Gaucher patients. Direct sequencing of the mutated samples identified a G6490-->A transition. The same mutation has been described before in a Japanese patient with Gaucher disease type III. The clinical phenotype of our patients was type I in one whose second allele carried the N370S mutation and type II in the other one with a L444P mutation. In this latter the G6490-->A substitution cancels a normal Msp I site, while on the opposite chromosome the T6433-->C mutation (L444P) introduces a new Msp I site. Thus, digestion with Msp I of the amplified exon 10 is a useful method for identifying the two mutations simultaneously.

摘要

通过单链构象多态性分析对葡萄糖脑苷脂酶基因进行突变筛查，发现两名无亲缘关系的意大利戈谢病患者的第10外显子呈现异常模式。对突变样本进行直接测序确定了一个G6490→A的转换。之前在一名日本III型戈谢病患者中也描述过相同的突变。我们患者中的一名患者临床表型为I型，其第二个等位基因携带N370S突变，另一名患者临床表型为II型，携带L444P突变。在后者中，G6490→A替代消除了一个正常的Msp I位点，而在另一条染色体上，T6433→C突变（L444P）引入了一个新的Msp I位点。因此，用Msp I消化扩增的第10外显子是一种同时鉴定这两种突变的有用方法。