Three Duchenne Muscular Dystrophy

Duchenne/Becker musc~ilar dystrophy(DMD/BMD) are progressive muscular disorders caused by mutations in the X-linked dystrophin gene. DMD is a common disease that affects 1/3500 male births, and one-third of all cases arise via new mutations. There is no cure or effective therapy, highly accurate gene diagnosis and carrier detection is necessary. The most common mutations in DMD/BMD are deletions, which account for 60% of the patients. About 80%of the deletions can be detected by using multiplex PCR with 9 oligonudeotide primers by Chamberlain et a1~?1. In the remainder of cases without an identifiable deletion, carrier detection and prenatal diagnosis depend on short tandem repeats (STR) haploid linkage analysis. To perform gene diagnosis and carriers examination of two Uygur families and a Han family with Ducheime muscular ~dystrophy in Xinjiang. persons in three families were analyzed with multiplex polymerase chain reaction (mPCR) with 9 oligonudeotide primers(Chamberlain~?1) and short tandem repeats (STR) haploid linkage analysis with 6 oligonudeotide primers. In one sporadic Uygur family and one Han family, the exon 48 was deleted. In another Uygur family , no deletions were detected in 9 exons. By using STR haploid linkage analysis with 6 o~gonudeotide primers, we detect 4 carriers in 5 female relatives in the nondeletive family 17 The results showed that the deletion of exon 48 or probably the deletion of exon 48.. 49 and 50 can be detected in Xinjiang Uygur DMD family; in the nondeletive family female carriers can be detected by STR analysis; and we can perform the prenatal gene diagnosis from these informations. It also suggested that the combination of multiplex PCR and short tandem repeats (STR) haploid linkage analysis are effective methods in Xinjiang Uygur DMD/BMD families.