Prenatal Diagnosis of Duchenne Muscular Dystrophy by Polymerase Chain Reaction Analysis
作者:
Susumu Katayama,
Naoki Takeshita,
Tomone Yano,
Yukiko Katagiri,
Yoshiko Shirosita,
Harumi Kubo,
Shun Hirakawa,
Tsuneyuki Ubagai,
期刊:
Fetal Diagnosis and Therapy
(Karger Available online 1994)
卷期:
Volume 9,
issue 6
页码: 379-384
ISSN:1015-3837
年代: 1994
DOI:10.1159/000264069
出版商: S. Karger AG
关键词: Prenatal diagnosis;Multiplex polymerase chain reaction;Polymerase chain reaction-restriction fragment length polymorphism analysis;Dinucleotide repeat polymorphism;Duchenne muscular dystrophy
数据来源: Karger
摘要:
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).
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