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墨西哥杜兴/贝克型肌营养不良症患者中肌营养不良蛋白基因缺失的分析。

Analysis of dystrophin gene deletions in patients from the Mexican population with Duchenne/Becker muscular dystrophy.

作者信息

Coral-Vázquez R, Arenas D, Cisneros B, Peñaloza L, Kofman S, Salamanca F, Montañez C

机构信息

Departamento de Genética y Biología Molecular, CINVESTAV-IPN, Escuela Nacional de Estudios Profesionales Iztacala-UNAM, México, D.F.

出版信息

Arch Med Res. 1993 Spring;24(1):1-6.

PMID:8292871
Abstract

Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.

摘要

对40名患有杜氏/贝克型肌营养不良症的无血缘关系的墨西哥患者,采用Chamberlain等人及Beggs等人描述的15个易发生缺失外显子的多重扩增方法,分析其DMD基因的基因内缺失情况。缺失的比例为52.5%,其中大多数(86.3%)位于包含外显子44 - 55的热点缺失区域。该频率高于在美国和欧洲人群中发现的频率。缺失大小、位置与临床严重程度之间无相关性。

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