论文部分内容阅读
目的 筛查和确定 Duchenne/ Becker肌营养不良症 ( Duchenne/ Becker muscular dystrophy,DMD/ BMD)家系的女性成员中的致病基因携带者与正常者 ,为进一步行产前诊断或植入前遗传学诊断提供信息。方法 用 PCR方法对 dystrophin基因第 4 4、4 5、4 9和 5 0内含子以及 5′DMD 的短串联重复序列( short tandem repeats,STR)扩增 ,然后进行基因扫描、软件分析 ,对 4个 DMD/ BMD家系中 2 7个成员的这 5个微卫星 DNA位点的多态性进行连锁分析。结果 在 4个家系 17名女性成员中 (有 1例女性 DMD患者 ) ,系谱和 STR多态性分析结果均符合的 DMD基因肯定携带者有 6名 ;单纯根据 STR多态性连锁分析结果确诊为 DMD基因携带者的女性成员有 5名 ,确诊为正常女性成员有 5名。在这 5个 STR位点中 ,最具多态性的位点是 STR- 4 9,多态性最少的位点是 STR- 5 0。结论 短串联重复序列多态性结合基因扫描能快速、准确、客观地检出 Duchenne/ Becker型肌营养不良症的女性携带者
OBJECTIVE: To screen for and identify carriers of disease-causing genes in female members of the Duchenne / Becker muscular dystrophy (DMD / BMD) pedigree and to determine whether prenatal diagnosis or preimplantation genetics Diagnosis provides information. Methods PCR was used to amplify the short tandem repeats (STRs) of the 44th, 44th, 49th, and 50th introns of the dystrophin gene and the 5 ’DMD, and then gene scanning and software analysis were performed. The 5 microsatellite DNA polymorphisms of 27 members of four DMD / BMD pedigrees were analyzed by linkage analysis. RESULTS: Of the 17 female members of 4 pedigrees (1 female with DMD), 6 were confirmed DMD gene carriers according to the results of pedigree and STR polymorphism analysis. According to the results of STR polymorphism linkage analysis, There were 5 female members of the DMD carriers and 5 female members diagnosed as normal. Of the five STR loci, the most polymorphic loci were STR-49 and the least-allelic loci were STR-50. Conclusion Short tandem repeat polymorphism combined with gene scan can detect Duchenne / Becker muscular dystrophy female carriers quickly, accurately and objectively