21-羟化酶缺乏症基因的定位

Location of the gene for 21-hydroxylase deficiency.

作者信息

Pucholt V, Fitzsimmons J S, Gelsthorpe K, Reynolds M A, Milner R D

出版信息

J Med Genet. 1980 Dec;17(6):447-52. doi: 10.1136/jmg.17.6.447.

DOI:10.1136/jmg.17.6.447

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1885920/

Abstract

HLA typing of 33 families with one or more children suffering from congenital adrenal hyperplasia confirmed that the gene for 21-hydroxylase deficiency is closely associated with the HLA region. Analysis of two families in which recombination of chromosome 6 had occurred indicated that the gene locus is between the A and D loci of the HLA region. The rare allele Bw47 was observed in 18 parents and was always associated with the carrier state for 21-hydroxylase deficiency.

摘要

对33个有一个或多个患先天性肾上腺皮质增生症孩子的家庭进行的HLA分型证实，21-羟化酶缺乏症基因与HLA区域密切相关。对两个发生了6号染色体重组的家庭的分析表明，该基因座位于HLA区域的A和D基因座之间。在18位父母中观察到罕见的Bw47等位基因，且它总是与21-羟化酶缺乏症的携带状态相关。

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本文引用的文献

1

Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.HLA连锁群内21-羟化酶缺陷基因的遗传定位。

N Engl J Med. 1978 Oct 26;299(17):911-5. doi: 10.1056/NEJM197810262991702.

2

Antenatal diagnosis of congenital adrenal hyperplasia.先天性肾上腺皮质增生症的产前诊断。

Lancet. 1979 Jul 7;2(8132):7-9. doi: 10.1016/s0140-6736(79)90174-0.

3

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.

Lancet. 1979 May 26;1(8126):1107-8. doi: 10.1016/s0140-6736(79)91789-6.

4

HLA typing of amniotic-fluid cells applied to prenatal diagnosis of congenital adrenal hyperplasia.羊水细胞的HLA分型应用于先天性肾上腺皮质增生症的产前诊断。

Lancet. 1979 May 19;1(8125):1076. doi: 10.1016/s0140-6736(79)92966-0.

5

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

Lancet. 1977;2(8052-8053):1309-12. doi: 10.1016/s0140-6736(77)90362-2.

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