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[HLA antigens and different clinical forms of 21-hydroxylase deficiency in the French population].

作者信息

Couillin P, Ravisé N, Hors J, Feingold J, Rappaport R, Kuttenn F, Boué A

出版信息

Pathol Biol (Paris). 1986 Jun;34(6):789-94.

PMID:3531997
Abstract

HLA associations with 21-OH deficiency were studied on respectively 109 and 60 congenital and late onset French index cases. Significant negative associations were found with antigens B8: congenital forms; B5, DR3: late onset. Significant positive associations were observed with A3, Bw47 (A3 Cw6 Bw47 DR7): congenital forms; B40: salt-wasting form; B5: simple virilizing form; Aw33, B14, DR1, DR2, DRw6 (Aw33 B14 DR1): late onset form. Among late onset patients not bearing B14 antigens significant positive associations were observed with B12 and B35.

摘要

相似文献

1
[HLA antigens and different clinical forms of 21-hydroxylase deficiency in the French population].
Pathol Biol (Paris). 1986 Jun;34(6):789-94.
2
Different gene defects in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH).
Ann N Y Acad Sci. 1985;458:71-5. doi: 10.1111/j.1749-6632.1985.tb14592.x.
3
Late-onset type of 21-hydroxylase deficiency in childhood.儿童期迟发型21-羟化酶缺乏症
Isr J Med Sci. 1982 Jul;18(7):763-8.
4
Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.21-羟化酶缺乏所致先天性肾上腺皮质增生症的明显无亲缘关系患者中MHC单倍型的共享情况。
Immunogenetics. 1987;25(2):99-103. doi: 10.1007/BF00364274.
5
[Genetic aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency].[21-羟化酶缺乏所致先天性肾上腺皮质增生症的遗传学方面]
J Genet Hum. 1987 May;35(2-3):145-58.
6
The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency.
J Clin Endocrinol Metab. 1980 Sep;51(3):647-9. doi: 10.1210/jcem-51-3-647.
7
Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies.先天性肾上腺皮质增生症（21-羟化酶缺乏症）患者家系中的杂合子和隐匿性患者。HLA和乙二醛酶I分型及激素研究。
Horm Res. 1982;16(3):151-9. doi: 10.1159/000179496.
8
[Genetic of the 21 hydroxylase deficiency].[21-羟化酶缺乏症的遗传学]
Ann Endocrinol (Paris). 1982;43(1):3-14.
9
Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish.在旧秩序阿米什人中 HLA - A3、Cw6、Bw47、DR7 与正常的 CA21HB 类固醇 21 - 羟化酶基因的耦合。
J Clin Endocrinol Metab. 1987 Nov;65(5):980-6. doi: 10.1210/jcem-65-5-980.
10
Particular interest of HLA typing for genetic counselling in families with congenital adrenal hyperplasia (21-OH deficiency).
Haematologia (Budap). 1987;20(1):25-30.

引用本文的文献

1
Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency.对4例有21-羟化酶缺乏风险的胚胎/胎儿进行产前DNA分析。
Eur J Pediatr. 1988 Dec;148(3):228-32. doi: 10.1007/BF00441409.