通过DNA分析进行杜氏肌营养不良症的产前诊断。
Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis.
作者信息
Old J M, Davies K E
出版信息
J Med Genet. 1986 Dec;23(6):556-9. doi: 10.1136/jmg.23.6.556.
Abstract
Linkage studies have been carried out in 20 families segregating for Duchenne muscular dystrophy and eight prenatal diagnoses performed, including six first trimester diagnoses and one twin pregnancy. The results of the restriction fragment length polymorphism (RFLP) analysis suggest that not all the possible RFLPs need to be used and a strategy for carrier detection studies is proposed.
摘要
对20个杜氏肌营养不良症分离家族进行了连锁研究，并进行了8次产前诊断，其中包括6次孕早期诊断和1次双胎妊娠诊断。限制性片段长度多态性（RFLP）分析结果表明，并非所有可能的RFLP都需要使用，并提出了一种携带者检测研究策略。
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