DMD and BMD prenatal genetic testing

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive genetic diseases that are caused by mutations in the anti-dystrophin gene Myogenic injury. The main type of gene mutation is a deletion of a gene fragment. There is a high incidence of deletions at the 5 'and 3' ends of the gene, especially the latter. The exon 51 region is the peak. Nearly 80% of the deletions in Chinese cases occur here. region. Among them, large-scale (one or several exons) deletions account for 60%, repetitive mutations account for 6%, and there are discontinuous deletions or complex mutations in the same patient that have both deletions and duplications, and small deletions account for 3%. Single nucleotide changes accounted for 29%. Prenatal genetic diagnosis of high-risk fetuses was performed using MLPA technology and intra-gene microsatellite polymorphism linkage analysis technology.

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