Korean J Obstet Gynecol.  2000 Jun;43(6):1080-1087.

Prenatal diagnosis of Duchenne muscular dystrophy using Polymerase Chain Reaction-restriction fragment length polymorphism(RFLP)

• Cha DH
• Lee K
• Choi JR
• Song KS

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.

Keyword

Duchenne muscular dystrophy; Prenatal diagnosis; PCR; RFLP

MeSH Terms

Alleles
Diagnosis
DNA
Dystrophin
Exons
Female
Fetus
Heterozygote
Humans
Male
Mothers
Muscular Dystrophy, Duchenne*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Pregnancy
Pregnant Women
Prenatal Diagnosis*
DNA
Dystrophin