The relative research between gene deletion with DMD and carrier screening / 重庆医科大学学报

ABSTRACT

Objective:To understand the distributional characteristics of dystrophin gene deletion in Chinese population and to search the linkage analysis of STR polymorphisms for DMD gene carriers.Methods:Contrasted with internal standard primer,A multiple PCR system was established according to the multiple sites of DMD exon deletion.The multiple exon deletions were examined in 40 DMD patients;At the same time,6 suspected carriers were detected using the linkage analysis of STR polymorphisms.Results:The thirty-tow of the 40 DMD patients were identified as having gene deletion,In this study,56%,56%,16%DMD patients could be detected in exon 45、48、51 gene deletion,so the three pairs primers could be used as best combination for detecting the gene deletion;six female relatives were diagnosed as carriers of the genes.Conclusion:It is important clinical value of allocating gene mutation sites in Chinese population according to the choosen exons and It is an effective approach to applying the linkage analysis of STR polymorphisms to detect carrier.