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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。

相似文献

1
[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency].[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]
Presse Med. 1984 Apr 21;13(17):1087-90.
2
[Adrenal hyperplasia as a result of 21-hydroxylase deficiency: prenatal diagnosis and treatment. Neonatal diagnosis].[21-羟化酶缺乏所致肾上腺增生：产前诊断与治疗。新生儿诊断]
Rev Med Liege. 1986 Jan 15;41(2):37-44.
3
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4
Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.羊水中17-α羟孕酮及HLA分型用于21-α羟化酶缺乏症（先天性肾上腺皮质增生症）的产前诊断
Am J Med Genet. 1980;6(4):295-300. doi: 10.1002/ajmg.1320060406.
5
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.通过与HLA - DNA探针的连锁分析及17 - 羟孕酮测定对孕早期21 - 羟化酶缺乏症进行产前诊断。
Hum Genet. 1986 Aug;73(4):358-64. doi: 10.1007/BF00279101.
6
Pitfalls in prenatal diagnosis of 21-hydroxylase deficiency by amniotic fluid steroid analysis? A six years experience in 102 pregnancies at risk.通过羊水类固醇分析进行21-羟化酶缺乏症的产前诊断存在哪些陷阱？对102例有风险妊娠的六年经验总结。
Ann N Y Acad Sci. 1985;458:130-47. doi: 10.1111/j.1749-6632.1985.tb14598.x.
7
HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH.用于21-羟化酶缺乏型先天性肾上腺皮质增生症孕中期产前诊断的HLA-A、B、C、DR分型及17-羟孕酮测定
Prenat Diagn. 1988 Feb;8(2):131-43. doi: 10.1002/pd.1970080207.
8
[Genetic of the 21 hydroxylase deficiency].[21-羟化酶缺乏症的遗传学]
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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis.
Prenat Diagn. 1982 Apr;2(2):97-102. doi: 10.1002/pd.1970020204.
10
Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.21-羟化酶缺乏症先天性肾上腺皮质增生症产前诊断的陷阱
J Clin Endocrinol Metab. 1985 Jul;61(1):89-97. doi: 10.1210/jcem-61-1-89.