Boué A, Couillin P, Pomarède R, Rappaport R, Boué J
Ann Endocrinol (Paris). 1982;43(1):3-14.
A dose genetic linkage exist between the HLA complex (especially HLA-B), and the 21 hydroxylase deficiency form of adrenal hyperplasia. By their polymorphisms HLA antigens can be used as "markers" to follow the segregation of 21-OH deficiency in families, to diagnose the heterozygous offspring and eventually to offer a prenatal diagnosis to couples at risk. In late onset forms of 21-OH deficiency the same genetic linkage has been demonstrated with a high frequency of HLA-B14 antigen.
HLA复合体（尤其是HLA - B）与肾上腺增生的21羟化酶缺乏型之间存在剂量遗传连锁。通过其多态性，HLA抗原可作为“标记物”，用于追踪家族中21 - OH缺乏症的遗传分离情况，诊断杂合子后代，并最终为有风险的夫妇提供产前诊断。在21 - OH缺乏症的迟发型中，已证实与HLA - B14抗原的高频率存在相同的遗传连锁。
