Efficiency of multiplex ligation-dependent probe amplification combined with short tandem repeat linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy.
- VernacularTitle:MLPA联合遗传连锁分析在假肥大型肌营养不良症产前诊断中的价值
- Author:
Tao LI
1
;
Dong WU
;
Qiao-fang HOU
;
Li WANG
;
Qian-nan GUO
;
Bing KANG
;
Hong-yan LIU
;
Ke YANG
;
Xue-bing DING
;
Shi-xiu LIAO
Author Information
- Publication Type:Journal Article
- MeSH: Dystrophin; genetics; Exons; Female; Genetic Linkage; Heterozygote; Humans; Male; Microsatellite Repeats; Multiplex Polymerase Chain Reaction; Muscular Dystrophy, Duchenne; diagnosis; genetics; Mutation; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2013;30(1):40-44
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy (DMD).
METHODSGender of the fetus was first determined by the presence of Y chromosome sex-determining gene (SRY). Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families.
RESULTSAmong the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY-negative fetuses, four were diagnosed as carriers. The remainders were normal.
CONCLUSIONMLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.
