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肌营养不良蛋白基因微卫星的进一步分子特征分析

Molecular characterization of further dystrophin gene microsatellites.

作者信息

King S C, Roche A L, Passos-Bueno M R, Takata R, Zatz M, Cockburn D J, Seller A, Stapleton P M, Love D R

机构信息

School of Biological Sciences, University of Auckland, New Zealand.

出版信息

Mol Cell Probes. 1995 Oct;9(5):361-70. doi: 10.1016/s0890-8508(95)91700-4.

Abstract

Microsatellites of the dystrophin gene have been used extensively in the genetic analysis of Duchenne and Becker muscular dystrophy families. The microsatellites that have been reported to date are clustered within disparate regions of the dystrophin gene, specifically at the 5'-end and in the central rod-domain. YACs encompassing the gene were screened for further microsatellites to improve the density of available genetic markers. Four microsatellites were localized to defined regions of the dystrophin gene by the analysis of patient DNA samples, somatic cell hybrids and YACs. In addition, varying combinations of microsatellite loci were amplified in multiplex PCRs, which complement those loci that have been studied to date.

摘要

肌营养不良蛋白基因的微卫星已广泛应用于杜兴氏和贝克氏肌营养不良家族的遗传分析。迄今为止报道的微卫星聚集在肌营养不良蛋白基因的不同区域,特别是在5'端和中央杆状结构域。对包含该基因的酵母人工染色体(YAC)进行筛选以寻找更多微卫星,从而提高可用遗传标记的密度。通过分析患者DNA样本、体细胞杂种和YAC,将四个微卫星定位到肌营养不良蛋白基因的特定区域。此外,在多重聚合酶链反应(PCR)中扩增了微卫星位点的不同组合,这补充了迄今为止已研究的那些位点。

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