[Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification].
Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutation in the DMD gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and performed prenatal diagnosis. Using multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR) methods, 26 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Seven out of 26 male fetuses were affected and the pregnancies were terminated. Four out of 26 female fetuses were found to be carriers. MLPA can be the method of choice for initial screening of DMD/BMD patients for deletions and duplications mutations. When combined with STR-based analysis, it can improve the rate of DMD/BMD prenatal diagnosis.
Wang
Qian
Q
Senior Professional Institute, China Medical University, Shenyang 110001, China. wangqian529@163.com
Jin
Chun-Lian
CL
Lin
Chang-Kun
CK
Cui
Wan-Ting
WT
Ma
Hong-Wei
HW
Wu
Ying-Yu
YY
D002353:Carrier State; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D020080:Tandem Repeat Sequences / Q000235:genetics