论文部分内容阅读
应用多重PCR(multiple polymerase reaction／mPCR)技术,联合DMD基因内部及附近11个短串连重复序列(short tandem repeats,STRs)位点连锁分析,对缺失型Duchenne／Becker肌营养不良(Duchenne／Becker Muscular Dystrophy, DMD／BMD)家系成员进行DMD基因分型,确定家系中女性成员是否携带者,并进行产前诊断。3个家系中的4名缺失型患者,其中2例为新发突变;4位女性成员中,1名为携带者。应用mPCR和11个STRs的连锁分析,能快速、准确、客观判断家系中女性成员是否携带者身份,适于DMD／BMD临床研究机构遗传咨询、基因诊断和产前诊断常规应用。但在 mPCR分析过程中,发现45号外显子扩增产物在不同凝胶中电泳迁移率不同。聚丙烯酰胺凝胶电泳(Polyacrylamide Gels Electrophoresis／PAGE)对mPCR产物分析快速、清晰,但需要注意片段迁移率,以防止分析错误。
Multiplex reaction (mPCR) and linkage analysis of 11 short tandem repeats (STRs) sites in and around DMD gene were performed to detect Duchenne / Becker muscular dystrophy (Duchenne / Becker Muscular Dystrophy, DMD / BMD) pedigrees for genotyping DMDs to determine whether female members of the pedigree are carriers and who have prenatal diagnosis. Four of the three pedigrees lacked patients, two of whom were newly-found mutations; one out of four female members was a carrier. Using mPCR and 11 STRs linkage analysis can quickly, accurately and objectively determine whether a female member of a pedigree is a carrier or not, and is suitable for routine consultation of genetic counseling, genetic diagnosis and prenatal diagnosis of DMD / BMD clinical research institutions. However, in the mPCR analysis, it was found that the exon 45 amplification products had different electrophoretic mobility in different gels. Polyacrylamide gel electrophoresis (PAGE) analysis of mPCR products quickly and clearly, but need to pay attention to the fragment mobility, to prevent the analysis of errors.