Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the characteristics of DNA mutations underlying Duchenne muscular dystrophy and provide prenatal diagnosis.</p><p><b>METHODS</b>Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were applied for analyzing DMD gene mutations in 388 unrelated Chinese patients and 53 fetuses.</p><p><b>RESULTS</b>Respectively, 230 and 43 subjects were found to harbor a deletion (59.28%) or duplication (11.08%). Two deletion hotspots were identified, which have located at exons 45-54 and exons 3-19. Duplications were mainly detected at exons 2-43. Point mutations were identified in 29.64% of patients. Fifty three fetuses were prenatal diagnosed, among which 18 were identified as patients.</p><p><b>CONCLUSION</b>Frequencies of DMD gene deletions and duplications in China are similar to global data. Prenatal diagnosis can help to reduce births of DMD patients.</p>