日本肌磷酸化酶缺乏症（麦卡德尔病）患者的基因分析：外显子17中的单密码子缺失是主要突变。

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

作者信息

Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y

机构信息

Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine, Shizuoka, Japan.

出版信息

Clin Chim Acta. 1995 Apr 30;236(1):81-6. doi: 10.1016/0009-8981(95)06044-x.

DOI:10.1016/0009-8981(95)06044-x

PMID:7664468

Abstract

We report molecular genetic analysis of 11 Japanese patients with myophosphorylase deficiency (McArdle's disease). Four reported mutations, frequently observed in patients with McArdle's disease, in exons 1, 5, 14 and 17 were investigated. Seven patients out of 11 were homozygous for a single-codon deletion at codon 708/709 in exon 17 and one patient was heterozygous for a single-codon deletion with an unknown mutant allele. In contrast, the predominant mutation reported in US and UK patients (CGA to TGA at codon 49 in exon 1), accounting for 75% and 83% of the cases, respectively, was not found in any of the Japanese patients. Results suggest that the predominant mutation in Japanese patients is a single-codon deletion at codon 708/709 in exon 17 (found in 73% of our patients) and differs from the most common mutation in US or UK patients.

摘要

我们报告了对11例日本肌磷酸化酶缺乏症（麦卡德尔病）患者的分子遗传学分析。研究了在麦卡德尔病患者中经常观察到的外显子1、5、14和17中的4个已报道的突变。11例患者中有7例在第17外显子的708/709密码子处存在单密码子缺失的纯合子，1例患者为单密码子缺失与未知突变等位基因的杂合子。相比之下，在美国和英国患者中报道的主要突变（外显子1中第49密码子处的CGA突变为TGA），分别占病例的75%和83%，在任何日本患者中均未发现。结果表明，日本患者的主要突变是第17外显子708/709密码子处的单密码子缺失（在我们73%的患者中发现），与美国或英国患者中最常见的突变不同。