Prenatal exclusion of choroideremia.
作者信息
van den Hurk J A, van Zandvoort P M, Brunsmann F, Pawlowitzki I H, Holzgreve W, Szabo P, Cremers F P, van Oost B A
机构信息
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
出版信息
Am J Med Genet. 1992 Dec 1;44(6):822-3. doi: 10.1002/ajmg.1320440621.
PMID:1362326
Abstract
We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis.
摘要
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