[巴什基尔共和国杜兴氏肌营养不良症患者肌营养不良蛋白基因缺失分析]

[Analysis of deletions in the dystrophin gene in patients with Duchenne muscular dystrophy in the Bashkir Republic].

作者信息

Grinchuk O V, Khidiiatova I M, Kiselev A V, Magzhanov R V, Khusnutdinova E K

机构信息

Department of Biochemistry and Cytochemistry, Ufa Research Center, Russian Academy of Sciences, Russia.

出版信息

Genetika. 1999 Apr;35(4):551-5.

PMID:10420280

Abstract

The deletion spectrum and distribution of deletion breakpoints (DBs) in 36 patients with Duchenne muscular dystrophy (DMD) from 33 families and in three patients with Becker muscular dystrophy (BMD) from one family from Bashkortostan were studied by amplifying 20 exons of the dystrophin gene by multiplex polymerase chain reaction (mPCR). Eight out of 34 unrelated DMD (BMD) patients (23.2%) were shown to carry a deletion varying in size from one to seven exons. Most DBs (15 out of 16, 93.7%) were in the distal region of the gene, commonly between exons 44-45, 45-47, and 50-52. Thus, high-polymorphic intergenic markers located in introns 44 (STR 44), 45 (STR 45), 49 (STR 49), and 50 (STR 50) can be used for indirect or direct carrier detection among women closely related to DMD patients that carry a deletion with DB located between exons 44-45, 45-47, and 50-52. Prenatal diagnosis of DMD is also possible in these families.

摘要

通过多重聚合酶链反应（mPCR）扩增抗肌萎缩蛋白基因的20个外显子，研究了来自巴什科尔托斯坦33个家庭的36例杜兴氏肌营养不良症（DMD）患者以及来自一个家庭的3例贝克氏肌营养不良症（BMD）患者的缺失谱和缺失断点（DBs）分布情况。34例非亲缘关系的DMD（BMD）患者中有8例（23.2%）被发现携带大小从1到7个外显子不等的缺失。大多数DBs（16个中的15个，93.7%）位于基因的远端区域，通常在外显子44 - 45、45 - 47和50 - 52之间。因此，位于内含子44（STR 44）、45（STR 45）、49（STR 49）和50（STR 50）中的高多态性基因间标记可用于在与携带位于外显子44 - 45、45 - 47和50 - 52之间DB缺失的DMD患者密切相关的女性中进行间接或直接携带者检测。在这些家庭中也可以进行DMD的产前诊断。