北京大学学报(医学版)
北京大學學報(醫學版)
북경대학학보(의학판)
JOURNAL OF BEIJING MEDICAL UNIVERSITY(HEALTH SCIENCES)
2006年
1期
53-56
,共4页
黎青%李少英%胡冬贵%孙筱放%陈敦金%张成%蒋玮莹
黎青%李少英%鬍鼕貴%孫篠放%陳敦金%張成%蔣瑋瑩
려청%리소영%호동귀%손소방%진돈금%장성%장위형
肌营养不良,杜氏%产前诊断%基因%核酸扩增技术
肌營養不良,杜氏%產前診斷%基因%覈痠擴增技術
기영양불량,두씨%산전진단%기인%핵산확증기술
Muscular dystrophy,Duchenne%Prenatal diagnosis%Gene%Nucleic acid amplification techniques
Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis. Methods: In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Results: Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method. Conclusion: Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.