不同类型21-羟化酶缺乏症的临床表型和基因型对比研究  

Comparison of phenotype and genotype distribution among three types of Chinese patients with 21-hydroxylase deficiency.

作　　者：张波[1] 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

出　　处：《中国优生与遗传杂志》2004年第4期14-16,27,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的　对 3种不同类型 2 1-羟化酶缺乏症临床特点进行对比研究。方法 9例失盐型患者 ,2 6例单纯男性化型患者和 8例非经典型患者基因组DNA用特定引物特异性扩增CYP2 1,用特定限制性内切酶消化后经琼脂糖凝胶电泳鉴定突变。回顾性分析临床和生化检查特点。结果　 (1)三种临床表现类型间 ,初诊年龄、初诊时骨龄、身高 ;反应 2 1-羟化酶活性的 17-OHP ,ACTH及 2 4hrUFC ;失盐表现等均存在有统计学意义的差异 ,P <0 .0 5。 (2 ) 8/ 9例失盐型患者是引起酶活性严重下降的基因型 ,2 0例能分型的单纯男性化型患者中 16例是引起酶活性中度下降的基因型 ,8例非经典型全部为酶活性轻度下降的基因型。基因型构成比在三种临床表型间存在有统计学意义的差异 ,χ2 =39.0 39,P =0 .0 0 0。结论　 (1) 2 1-羟化酶缺乏症三种亚型临床表现具有各自特征。 (2 )基因型构成在三种 2 1-羟化酶缺乏症临床分型间存在差异 ,基因型决定临床表型。Objective: To investigate clinical characteristics of Chinese patients with 21-hydroxylase deficiency and the relationship between genotype and phenotype, a time saving, reliable molecular diagnosis method was developed. Methods: 9 patients with salt wasting, 26 patients with simple virilising and 8 patients with NC 21-OHD were studied retrospectively and CYP21 gene was amplified, then PCR products were digested by restrictive enzymes to analyze mutations. Results: Age of first visit, basal 17-OHP, ACTH and 24hr UFC, salt wasting manifestation were significantly different among three types of 21-OHD, P<0.05.Genotype was classified into three groups according to the degree of 21-hydroxylase enzymatic compromise caused by the mutation. The composition of genotype classification was also significantly different among three types of 21-OHD, χ 2=39.039,P=0.000. Conclusion: Each type of 21-OHD has its own clinical characteristics and genotype determines phenotype in Chinese patients with 21-hydroxylase deficiency.

关 键 词：21-羟化酶缺乏症 肾上腺增生 先天 CYP21基因 甾类21-单加氧酶 

分 类 号：R586[医药卫生—内分泌]