Coral-Vázquez R, Arenas D, Cisneros B, Peñaloza L, Kofman S, Salamanca F, Montañez C
Departamento de Genética y Biología Molecular, CINVESTAV-IPN, Escuela Nacional de Estudios Profesionales Iztacala-UNAM, México, D.F.
Arch Med Res. 1993 Spring;24(1):1-6.
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.
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。
