de Jongh B M, Veldhuis J D, Drop S L, Nijenhuis L E, Dupont B
Tissue Antigens. 1984 Jul;24(1):18-24. doi: 10.1111/j.1399-0039.1984.tb00392.x.
To determine the genetic relations between HLA and deficiencies of steroidogenic enzymes other than 21-hydroxylase, we investigated HLA and congenital hypoaldosteronism in two families with corticosterone methyl-oxidase type 2 (CMO2) and one family with type 1 (CMO1) deficiency, respectively. Apart from a first documentation of HLA in CMO1 deficiency, our results, combined with those reported previously, excluded close linkage of HLA and CMO2 deficiency. However, loose linkage could not be encluded and the segregation of HLA haplotypes in sibships with CMO2 deficiency deviated significantly from random segregation. We suggest that HLA and CMO2 deficiency may not be independent.
为了确定人类白细胞抗原（HLA）与21-羟化酶以外的类固醇生成酶缺乏之间的遗传关系，我们分别对两个患有2型皮质酮甲基氧化酶（CMO2）缺乏症的家族和一个患有1型（CMO1）缺乏症的家族进行了HLA和先天性醛固酮增多症的研究。除了首次记录CMO1缺乏症中的HLA外，我们的结果与先前报道的结果相结合，排除了HLA与CMO2缺乏症的紧密连锁。然而，不能排除松散连锁，并且在患有CMO2缺乏症的同胞中HLA单倍型的分离明显偏离随机分离。我们认为HLA与CMO2缺乏症可能不是独立的。
