The Relative Research Between Gene Deletion With DMD And Carrier Screening

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:1.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 by the linkage analysis of STR polymorphisms.2.One genealogy was screened the gene deletion using five exons of the first part and the female carriers were detected by STR polymorphic linkage analysis.Results:1.The thirty-two 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.2.The objective fragment were presented in all members .In this genealogy ,the linkage analysis showed the haplotype of mutation gene was A1B1C1D1.Because the female relatives inherited the same haplotype(A1B1C1D1) ,they were carriers of the genes.Conclusion:1.It is important clinical value of allocating gene mutation sites in Chinese population according to the choosen exons .2.It is an effective approach to applying the STR polymorphic linkage analysis to detect carrier.