Korean J Obstet Gynecol Search

CLOSE


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
Abstract
OBJECTIVE
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


ABOUT
ARTICLE & TOPICS
Article category

Browse all articles >

Topics

Browse all articles >

BROWSE ARTICLES
POLICY
FOR CONTRIBUTORS
Editorial Office
4th Floor, 36 Gangnam-daero 132-gil, Gangnam-gu, Seoul 06044, Korea
Tel: +82-2-3445-2382    Fax: +82-2-3445-2440    E-mail: journal@ogscience.org                

Copyright © 2021 by Korean Society of Obstetrics and Gynecology. All rights reserved.

Developed in M2community

Close layer
prev next