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Korean Journal of Obstetrics & Gynecology 2000;43(6):1080-1087.
Published online January 1, 2001.
Prenatal diagnosis of Duchenne muscular dystrophy using Polymerase Chain Reaction-restriction fragment length polymorphism(RFLP).
Dong Hyun Cha, Kook Lee, Jong Rak Choi, Kyung Soon Song
Duchenne muscular dystrophy(DMD) is a X-linked recessive disease and results from mutation in the dystrophin gene. In this study, we evaluate the efficacy of polymerase chain reaction-restriction fragment length polymorphism in prenatal genetic diagnosis of DMD. METHODS: DNA was isolated from DMD family's blood and fetal amniocyte and used to perform PCR-RFLP. In DMD family(3 cases), linkage analysis was tried with 5 RFLP probes. RESULTS: DMDs of the family A had mutiple exon deletions(6, 8, 12, 13, 17). The mother was a heterozygote of pERT84;MaeIII. The male fetus had a same allele and also same exon deletions with the affected males. The pregnancy was terminated at IUP 18 gestational weeks. Pregnant woman of the family B was heterozygote of both pERT84;MaeIII and pERT87-15;BamHI, and pregnant woman of the family C was of pERT84;MaeIII. The both male fetuses , as compared with the affected male of each family, had a different allele. Thus, the fetuses were probably not affected with a confidence level of 95%. CONCLUSIONS: Prenatal diagnosis in prevention of DMD is most important. PCR-RFLP analysis in DMD family is rapid and useful diagnostic tool.
Key Words: Duchenne muscular dystrophy, Prenatal diagnosis, PCR, RFLP

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