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通过连锁分析进行产前诊断:甲型血友病与多态性葡萄糖-6-磷酸脱氢酶

Prenatal diagnosis by linkage: hemophilia A and polymorphic glucose-6-phosphate deydrogenase.

作者信息

Edgell C J, Kirkman H N, Clemons E, Buchanan P D, Miller C H

出版信息

Am J Hum Genet. 1978 Jan;30(1):80-4.

Abstract

Close linkage between the loci for G6PD and hemophilia A allows prenatal diagnosis of hemophilia in the fetuses of certain women who are heterozygous for two electrophoretic types of G6PD. A pregnant woman, whose mother was an obligate heterozygote for hemophilia, had factor VIII levels and a G6PD phenotype that failed to indicate clearly whether or not she was heterozygous for hemophilia. The G6PD phenotype of her male fetus revealed that the fetus was unlikely to have hemophilia.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)基因座与甲型血友病基因座之间紧密连锁,这使得对某些具有两种电泳类型G6PD的杂合子女性胎儿进行甲型血友病的产前诊断成为可能。一名孕妇,其母亲是血友病的必然杂合子,其因子VIII水平和G6PD表型未能明确表明她是否为血友病杂合子。她男性胎儿的G6PD表型显示,该胎儿不太可能患有血友病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67a4/1685467/2ee607d8756b/ajhg00199-0084-a.jpg

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