Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy
- VernacularTitle:假肥大型肌营养不良症的产前基因诊断
- Author:
Qing LI
;
Shaoying LI
;
Donggui HU
;
Xiaofang SUN
;
Dunjin CHEN
;
Cheng ZHANG
;
Weiying JIANG
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy,Duchenne;
Prenatal diagnosis;
Gene;
Nucleic acid amplification techniques
- From:
Journal of Peking University(Health Sciences)
2006;38(1):53-56
- CountryChina
- Language:Chinese
-
Abstract:
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.
