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[21-羟化酶缺乏所致肾上腺皮质增生症的遗传咨询与产前诊断]

[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency].

作者信息

Couillin P

出版信息

Presse Med. 1984 Apr 21;13(17):1087-90.

PMID:6232534
Abstract

The close linkage recently discovered between 21-hydroxylase deficiency and genes of the HLA system has given a new impulse to genetic studies of congenital adrenal hyperplasia. Segregation of the deficient genes can now be followed within the families affected, which considerably enlarges the possibilities of genetic counselling, while prenatal diagnosis is facilitated by modern methods of HLA typing of amniotic fluid cells and by modern techniques of amniotic steroid assays.

摘要

最近发现的21-羟化酶缺乏症与HLA系统基因之间的紧密联系,为先天性肾上腺皮质增生症的遗传学研究带来了新的推动力。现在可以在受影响的家庭中追踪缺陷基因的分离情况,这大大增加了遗传咨询的可能性,同时现代羊水细胞HLA分型方法和现代羊水类固醇检测技术也有助于产前诊断。

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