云南傣族、彝族、汉族Citrin缺陷SLC25A13基因突变的筛查

目的:调查云南傣族、彝族、汉族希特林蛋白缺陷SLC25A13基因突变的分布特点。方法:应用等位基因特异性扩增方法(AS-PCR),复合扩增10个SLC25A13基因高频突变位点,用毛细管电泳检测扩增产物和GeneMapper software 5软件,分析2189个样本的SLC25A13基因型,用Sanger测序验证。结果:3个民族均检出CT4(IVS16ins3kb)和CT8(c.851-854del4)突变,汉族群体还发现CT2(c.1638_1660dup23)突变。c.851-854del4在傣族人群的突变类型中占有较高比例(75%)。傣、彝、汉族SLC25A13基因的突变携带率分别为1.2%(1/83)、0.44%(1/227)和1.48%(1/67);傣、彝族分别与汉族突变基因携带率比较无差异(P>0.05)。理论上3个民族的NICCD发病率分别为1/27445、1/206116和1/18151,总发病率为1/30667。结论:希特林缺陷病在云南群体中广泛存在。通过SLC25A13基因突变筛查可以为临床遗传咨询和干预提供参考。

Screening of SLC25A13 genetic mutations associated with Citrin deficiency in Dai,Yi and Han nationalities of Yunnan province

Objective:To investigate the distribution characteristics of SLC25A13 genetic mutations associated with Citrin deficiency in Dai,Yi and Han nationalities of Yunnan province.Methods:10 high-frequency mutations of the SLC25A13 gene were detected by allele-specific PCR,and capillary electrophoresis was used for detected amplification product.The genotypes of SLC25A13 gene of 2189 samples were analyzed by GeneMapper software 5 and were verified by Sanger sequencing.Results:CT4(IVS16ins3kb)and CT8(4c.851-854del4)mutations of SLC25A13 gene were identified in these three nationalities,and CT2(c.1638_1660dup23)mutation had been identified in Han nationality only.c.851-854del4 mutation contributed to 75%of the total mutatedalleles in Dai population.The mutation carrier rate of Dai,Yi and Han populations were 1.2%(1/83),0.44%(1/227),and 1.48%(1/67),respectively.There was no significant difference in mutation carrier rate between Dai or Yi nationality and Han nationality(P>0.05).Theoretically,the incidence of NICCD of the three ethnic groups was 1/27445,1/206116 and 1/18151,and the total incidence was 1/30667.Conclusion:Citrin deficiency exists in people of Yunnan province widely.Screening of SLC25A13 gene mutationscan can provide evidence for clinical genetic counseling and intervention.