产前排除脉络膜骨瘤病。

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.

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

我们使用连锁多态性DNA标记DXS95进行产前检测，以预测脉络膜视网膜病变（CHM）的遗传情况。对妊娠12周时的绒毛膜绒毛进行DNA分析表明，有风险的等位基因并未从杂合子母亲传递给胎儿。通过聚合酶链反应-单链构象多态性（PCR-SSCP）分析证实了这种脉络膜视网膜病变的产前排除。