作为先天性肾上腺皮质增生症遗传咨询方法的人类白细胞抗原分型
HLA typing as a method of genetic counselling in congenital adrenal hyperplasia.
作者信息
Savage M O, Field H, Wolf E, Pembrey M E, Grant D B
出版信息
Arch Dis Child. 1982 Apr;57(4):315-7. doi: 10.1136/adc.57.4.315.
Abstract
A Turkish Cypriot family with 3 consanguineous marriages is described. Segregation of the 21-hydroxylase deficiency gene was traced by HLA genotyping and this information used for genetic counselling.
摘要
本文描述了一个有3例近亲婚姻的土族塞浦路斯家庭。通过HLA基因分型追踪21-羟化酶缺乏症基因的分离情况，并将此信息用于遗传咨询。
相似文献
1
HLA typing as a method of genetic counselling in congenital adrenal hyperplasia.作为先天性肾上腺皮质增生症遗传咨询方法的人类白细胞抗原分型
Arch Dis Child. 1982 Apr;57(4):315-7. doi: 10.1136/adc.57.4.315.
2
Particular interest of HLA typing for genetic counselling in families with congenital adrenal hyperplasia (21-OH deficiency).
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Presse Med. 1984 Apr 21;13(17):1087-90.
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[Genetic linkage between HLA and virilizing adrenal hyperplasia: study of 12 cases].[人类白细胞抗原（HLA）与男性化肾上腺增生之间的遗传连锁：12例研究]
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[Linkage between congenital adrenal hyperplasia with 21-hydroxylase deficiency and HLA histocompatibility groups].
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Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
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本文引用的文献
1
Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?先天性肾上腺皮质增生症——一项临床与遗传学调查。我们是否检测出男性失盐型患者？
Arch Dis Child. 1980 Aug;55(8):622-5. doi: 10.1136/adc.55.8.622.
2
Detection of heterozygotes for congenital adrenal hyperplasia: 21-hydroxylase deficiency-a comparison of HLA typing and 17-OH progesterone response to ACTH infusion.先天性肾上腺皮质增生症杂合子的检测：21-羟化酶缺乏症——HLA分型与促肾上腺皮质激素输注后17-羟孕酮反应的比较
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Nature. 1976 Aug 26;262(5571):795-7. doi: 10.1038/262795a0.
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