Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy

Qing Li, Shao-ying Li, Dong-Gui Hu, Xiao-fang Sun, Dun-jin Chen, Cheng Zhang, Wei-ying Jiang

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)53-56
Number of pages4
JournalJournal of Peking University (Health Sciences)
Volume38
Issue number1
Publication statusPublished - 1 Feb 2006
Externally publishedYes

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