摘要
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。
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.
作者
叶峻杰
孙丽娟
陈婷婷
马娅萍
杜应雄
张乐
YE Junjie;SUN Lijuan;CHEN Tingting;MA Yaping;DU Yingxiong;ZHANG Le(Yunnan Population and Family Planning Research Institute,Key Laboratory of Preconception Health in Western China of National Health and Family Planning Commission, Key Laboratory of Fertility Regulation and Minority Birth Health Research of Yunnan Province , Kunming, Yunnan Province, 650021;Chongqing Population and Family Planning Science and Technology Research Institute,Key Laboratory of Birth Defects and Reproductive Health of National Health and Family Planning Commission)
出处
《中国计划生育学杂志》
2020年第4期528-532,共5页
Chinese Journal of Family Planning
基金
重庆市人口和计划生育科学技术研究院出生缺陷与生殖健康重点实验室基金(2016cstc-jbky-01717)。
