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非典型21-类固醇羟化酶缺乏症是一种常见的、因生后雄激素过剩引起不同体征为特点的皮质醇合成轻度障碍性疾病。本征是因编码21-羟化酶的CYP21B等位基因突变所致(CYP21B基因位于HLA组织相容性复合体中)。这种非典型等位基因变异通常与人类第6号染色体短臂的HLA抗原基因B 14,DR 1有关联。方法 (1)DNA基因组文库的建立:用HLA单倍型B 14,DR 1纯合子患者的B淋巴母细胞系提取染色体DNA。DNA用限制性内切核酸酶BamHI和
Atypical 21-steroid hydroxylase deficiency is a common mild cortisol-induced disorder characterized by different signs of postnatal androgen excess. This is due to mutations in the CYP21B allele encoding 21-hydroxylase (the CYP21B gene is located in an HLA histocompatibility complex). This atypical allelic variation is usually associated with the HLA antigens B 14, DR 1 on the short arm of human chromosome 6. Methods (1) Establishment of DNA Genomic Library: Chromosomal DNA was extracted from B lymphoblastoid cell lines of HLA haplotype B 14 and DR 1 homozygotes. DNA with restriction endonuclease BamHI and