非经典型21-羟化酶缺乏症基因型和临床特征  

Genotype and clinical characteristics of Chinese patients with nonclassical steroid 21-hydroxylase deficiency

作　　者：张波[1,2] 陆召麟[1] 王玥[1] 陶红[1] 

机构地区：[1]中国医学科学院,中国协和医科大学,北京协和医院内分泌科,100730 [2]北京中日友好医院内分泌科

出　　处：《中华内分泌代谢杂志》2005年第1期43-46,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的　对中国人非经典型 21 羟化酶缺乏症(21 OHD)基因型进行研究。方法　8例非经典型 21 OHD患者, 35例经典型 21 OHD患者,及 20例正常对照者基因组DNA用特定引物扩增CYP21的两个片段,片段 1从外显子 1→外显子 3,片段 2从外显子 3→外显子 10。用片段 1和片段 2为模板进行第二轮PCR,用特定限制性内切酶消化后经琼脂糖凝胶电泳鉴定突变。结果　 ( 1 ) 8例中国人非经典型 21 OHD最常见的突变为P30L(6 /16, 37. 5% ),其次为V281L(4 /16, 25. 0% ), 引起 21 羟化酶活性中、重度下降的突变i2g(3 /16, 18. 8% ),Q318X和R356W各 (1 /16, 6. 3% ),I172N(3 /16, 18. 8% )。(2)非经典型21 OHD患者ACTH1 24兴奋试验 17 OH孕酮基础值为 (23. 9±28. 4)μg/L,兴奋后为 ( 92. 0±83. 7 )μg/L。(3)基因型分型与 21 OHD的临床表型有明显的相关性。结论　(1)中国人非经典型 21 OHD最常见的突变是P30L,其次为V281L,不同于白种人。(2)对高雄激素血症患者要注意非经典型 21 OHD的诊断和筛查。Objective To investigate the genotype in Chinese patients with nonclassical 21 hydroxylase deficiency (NC 21OHD). Methods Eight patients with NC 21 OHD, 35 patients with classical one and 20 normal controls were studied as followed: CYP21 gene was amplified into fragment 1 (exon1→exon3) and fragment 2 (exon3→exon10) through PCR with specific primers. Second round PCRs were performed using fragment 1 and 2 as template, and PCR products were digested by restrictive endonucleases to analyze mutations by 3% 4% agarose gel electrophoresis. Results (1) The most frequent mutation in 8 cases of Chinese NC 21 OHD was P30L(6/16,37.5%), followed by V281L(4/16,25.0%). NC 21 OHD also carried mutations causing moderate or severe degree of enzymatic compromise, such as i2g (3/16, 18.8%), Q318X and R356W (1/16, 6.3% respectively), and I172N (3/16, 18.8%). (2) In ACTH 1 24 stimulation tests of 8 NC 21 OHD patients, basal 17 OH progesterone level was (23.9±28.4)μg/L and stimulated 17 OH progesterone level was (92.0±83.7)μg/L. (3) Genotype had strong correlation with phenotype in 21 OHD patients. Conclusion (1) As compared with caucasians, the most frequent mutation in Chinese NC 21 OHD is P30L, not V281L. (2) Much more attention should be paid to patients with hyperandrogenism to screen NC 21 OHD.

关 键 词：经典型 患者 21-羟化酶缺乏症 突变 常见 基因型 临床特征 片段 外显子 基因组DNA 

分 类 号：R586[医药卫生—内分泌]