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采用抗AB血清检测胎儿红细胞浓度进行β地中海贫血的产前诊断。

Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum.

作者信息

Furbetta M, Valenti C, Ximenes A, Angius A, Tuveri T, Fioretti P, Cao A

出版信息

J Med Genet. 1979 Oct;16(5):366-8. doi: 10.1136/jmg.16.5.366.

Abstract

Prenatal diagnosis by globin chain synthesis analysis on fetal blood samples obtained by placental aspiration was performed in two pregnancies at risk for beta-thalassaemia. Since both fathers had blood group AB, and both mothers had group O, fetal red cell concentration from maternal-fetal mixtures was obtained with the aid of anti-AB serum. With this approach it was possible to carry out globin chain synthesis analysis with very small amounts of fetal blood. Heterozygous and normal genotypes were ascertained and confirmed after birth.

摘要

通过胎盘穿刺获取胎儿血样进行珠蛋白链合成分析,对两例有β地中海贫血风险的妊娠进行了产前诊断。由于两位父亲均为AB血型,两位母亲均为O血型,借助抗AB血清从母胎混合血中获取胎儿红细胞。通过这种方法,使用极少量的胎儿血就可以进行珠蛋白链合成分析。出生后确定并证实了杂合子和正常基因型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e30/1012611/94243c6ec69a/jmedgene00294-0040-a.jpg

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