云南彝族人群G6PD基因C1311T突变及单体型研究  

G6PD gene C1311T mutation and haplotype in Yunnan Yi people

作　　者：何永蜀[1] 李清[1] 杨芳[1] 罗兰[1] 龙榕[2] 朱月春[3] 

机构地区：[1]昆明医科大学基础医学院细胞生物学与医学遗传学系,云南昆明650500 [2]昆明医科大学基础医学院药理学系,云南昆明650500 [3]昆明医科大学基础医学院生物化学与分子生物学系,云南昆明650500

出　　处：《中国现代医学杂志》2015年第18期16-20,共5页China Journal of Modern Medicine

基　　金：国家自然科学基金项目(No:31260264;81160246)

摘　　要：目的研究云南彝族G6PD缺乏症患者及健康人群G6PD基因c DNAC1311T突变及复合IVS11T93C突变的单体型,探讨两种突变之间的连锁关系。方法应用SNa Pshot技术检测82例G6PD缺乏症患者、67例健康对照个体G6PD基因C1311T及IVS11T93C突变,用直接计数法计算C1311T突变的基因频率及单体型频率,χ2检验进行两组间比较并统计学分析。结果云南彝族G6PD缺乏症患者和健康对照组1311T突变基因频率分别为0.13和0.15,1311C基因频率分别为0.87和0.85。1311T突变在彝族G6PD缺乏症患者和健康人群间比较差异无统计学意义(P>0.05)。发现c DNAC1311T突变与IVS11T93C突变紧密连锁。男性中存在三种单体型93C/1311T、93C/1311C、93T/1311C,女性中存在四种单体型93T/1311C、93CT/1311CT,单体型93C/1311C未见文献报道,两组人群各单体型分布统计学分析差异无统计学意义(P>0.05)。结论 G6PD基因1311T突变在彝族健康人群和G6PD缺乏症患者中普遍分布,1311T基因频率低于已报道的南亚和东南亚地区的频率,高于中国广东人群突变频率。C1311T与IVS11T93C是紧密连锁的突变位点,在彝族人群中常复合突变,其与G6PD酶活性的关系有待进一步研究。SNPshot方法在G6PD基因分型中有快速、灵敏的特点,并有利于女性杂合子的检出,本研究有助于理解云南省少数民族G6PD基因的遗传多态现象。【Objective】To study the G6 PD gene C1311 T mutation and haplotype among G6PD-deficient patients and healthy individuals in Yi people of Yunnan province and to investigate the linkage relationship between C1311 T and IVS11T93 C mutations. 【Methods】C1311T and IVS11T93 C gene mutations were detected using snapshot technique in a total of 82 cases who were confirmed as G6 PD deficient individuals and 67 healthy individuals. And then,direct counting method was used to calculate the frequency of C1311 T allele and haplotypes, the differences were compared between these two groups through chi-square test. 【Results】The frequency of 1311 T allele in the patients and healthy individuals were 0.13 and 0.15 respectively, 1311 C frequency in the patients and healthy individuals was 0.87 and 0.85 respectively in Yi people of Yunnan province without statistical difference（P 〉 0.05）. And also, there were three haplotypes in male i.e. 93C/1311 T, 93C/1311 C and 93T/1311 C, and two haplotypes in female i.e. 93T/1311 C and 93CT/1311 CT. Among them, 93C/1311 C was the first report. Statistical analysis showed that there were no differences between the two groups（P 〉 0.05）. 【Conclusions】The C1311 T mutation is popular in both healthy and G6PD-deficient individuals of Yi people in Yunnan province. The frequency of 1311 T allele is lower than that in South Asia and Southeast Asia populations and is higher than that in the Guangdong population. A strong association has been observed between 1311 T and IVS1193 C which are two close linkage mutations in Yi people. SNPshot method is a rapid and sensitive method for G6 PD genotyping and can greatly improve the detection of women heterozygote. The study will help to understand genetic polymorphism of G6 PD gene in the minority population of Yunnan province.

关 键 词：G6PD基因 C1311T突变 SNPshot 彝族 云南省 

分 类 号：R394[医药卫生—医学遗传学]