[杜兴氏和贝克氏肌营养不良症中肌营养不良蛋白基因内的缺失]

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].

作者信息

Zimowski J G, Bisko M, Fidziańska E, Hausmanowa-Petrusewicz I, Badurska B, Borkowska J, Lusakowska A, Fidziańska A, Jezuita J, Zaremba J

机构信息

Zakładu Genetyki, Instytutu Psychiatrii i Neurologii, Warszawie.

出版信息

Neurol Neurochir Pol. 1993 Jul-Aug;27(4):469-78.

PMID:8247234

Abstract

DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.

摘要

对96例杜氏或贝克型肌营养不良症（DMD、BMD）患者的DNA进行了分离和分析；其中9例为BMD患者。使用6种cDNA探针在60例患者（62.5%）中发现了缺失。在某些情况下还应用了PCR技术。在BMD患者中，除1例缺失外，其余均为框内缺失，涉及外显子45 - 54。相反，DMD中的大多数缺失为框外缺失，其位置各不相同。对5个家庭进行了产前诊断。