Prenatal diagnosis of Duchenne muscular dystrophy by polymerase chain reaction analysis.
The efficacy of the polymerase chain reaction (PCR) in the first-trimester prenatal diagnosis of Duchenne muscular dystrophy (DMD) was examined. Twenty-seven fetuses from 26 Japanese pedigrees at risk for DMD were analyzed. PCR-restriction fragment length polymorphism analysis, multiplex PCR, and dinucleotide repeat polymorphism analysis were used. Of 16 males, 11 were determined to be unaffected, 4 were affected, and the remaining 1 was undetermined. Of the 11 female fetuses, 1 was diagnosed as a noncarrier, 4 were carriers, and the carrier status of the remaining 6 was not determined at the option of the patients, although DNA polymorphisms could be detected in those patients. Prenatal diagnosis by PCR analysis was possible in 96% of the fetuses tested (26 of 27).
Katayama
S
S
1st Department of Obstetrics and Gynecology, School of Medicine, Toho University, Tokyo, Japan.
Takeshita
N
N
Yano
T
T
Katagiri
Y
Y
Shirosita
Y
Y
Kubo
H
H
Hirakawa
S
S
Ubagai
T
T
D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007564:Japan; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012091:Repetitive Sequences, Nucleic Acid
D009838:Oligodeoxyribonucleotides