孕早期通过测定极长链脂肪酸水平并与DNA探针进行连锁分析对肾上腺脑白质营养不良进行产前诊断。
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.
作者信息
Boué J, Oberle I, Heilig R, Mandel J L, Moser A, Moser H, Larsen J W, Dumez Y, Boué A
出版信息
Hum Genet. 1985;69(3):272-4. doi: 10.1007/BF00293039.
PMID:3856557
Abstract
A first trimester prenatal diagnosis of adrenoleukodystrophy has been done on chorionic villi biopsy in the pregnancy of a carrier woman. Two different approaches allowed one to determine that the male fetus was affected: the linkage analysis of DNA from chorionic villi using the highly polymorphic probe St 14 and the determination of very long chain fatty acid levels in cultured chorionic villi.
摘要
在一名携带者女性的孕期，通过绒毛取样对肾上腺脑白质营养不良进行了孕早期产前诊断。两种不同的方法确定了男性胎儿患病：使用高度多态性探针St 14对绒毛DNA进行连锁分析，以及测定培养的绒毛中极长链脂肪酸水平。
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