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中国人17OHD遗传特点及患病率的初步探讨

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DOI:
作者:
陈霞
Study on the genetic characteristic and prevalence of 17OHD in Chinese people
作者单位:
上海交通大学第一人民医院内分泌代谢科
Department of Endocrinology and Metabolism,Shanghai General Hospital,Shanghai Jiaotong University,Shanghai 200080,China
关键词:
17α-羟化酶／l7,20-碳链裂解酶缺陷症；CYP17A1基因；基因突变；种族特异性
17OHD; CYP17A1 gene; gene mutation; racial specificity
摘要:
【摘要】 目的 探讨中国人17OHD种族特异性的基因突变特点。方法 收集三个无血缘关系17OHD家系的患者、患者亲属和288个健康正常人的外周血，抽提DNA后，通过PCR、亚克隆测序、限制性酶切片段长度多态性(RFLP)等方法对致病基因17α羟化酶基因(CYP17A1) 进行突变分型，并对国内报道的17OHD病例进行回顾性分析。结果 第6号外显子TAC329AA突变形成截短型蛋白Y329K,418X和第8号外显子GACTCTTTC 9碱基缺失导致D487_S488_F489DEL为中国人17OHD最常见的两种突变类型。结论 17OHD在中国人中遗传具有种族特异性，患病率虽低但并不罕见，宣传避免相对局限地区的通婚，对高发地区人群进行筛查，并针对性对已知家系杂合子进行婚前及产前检查，这些可降低17OHD的患病率。
【Abstract】 Objective To explore the racial specificity of genetic characteristics in Chinese people with 17α-hydroxylase/17,20-lyase deficiency. Methods PCR, sub-clone sequencing and PCR-RFLP were performed to screen the mutations of CYP17A1 gene in three pedigrees and 288 healthy people, which was also based on the mutational analysis of 26 reported cases in China. Results Compared to other mutation types, TAC329AA in exon6 and 487GACTCTTTC489del in exon8 are identified as the first two prevalent mutations, which causing P450c17 activity deficiency and accounting for 71.15% of total alleles (38/52). It suggests these two mutations may have racial specificity. During the screening of 487GACTCTTTCdel489 in exon8, we found one heterozygote in 288 healthy people. Conclusion In Chinese people, the prevalence and heterozygote frequency of 17OHD may be higher than the anticipated ones, especially with racial specificity. We should put more emphasis on the control of 17OHD and try our best to reduce the prevalence of the disease.

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