中国广西玉林地区育龄人群地中海贫血基因突变类型的分析  

Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China

作　　者：李东明[1] 李继慧[2] 陈德敏[1] 何升 LI Dong-Ming;LI Ji-Hui;CHEN De-Min;HE Sheng(Department of Clinical Laboratory,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,Guangxi Zhuang Autonomous Region,China;Department of Clinical Laboratory,Yulin Child Health Hospital of Guangxi Zhuang Autonomous Region,Yulin 537000,Guangxi Zhuang Autonomous Region,China;Research Center for Guangxi Birth Defects Control and Prevention,Nanning 530012,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]广西壮族自治区妇幼保健院检验科,广西南宁530003 [2]广西壮族自治区玉林市妇幼保健院检验科,广西玉林537000 [3]广西壮族自治区出生缺陷预防与控制研究所,广西南宁530012

出　　处：《中国实验血液学杂志》2020年第6期2011-2016,共6页Journal of Experimental Hematology

基　　金：国家自然科学基金(81660034);广西卫生适宜技术开发项目(S201613);广西自然科学基金(2016GXNSFAA380078);中央引导地方财政专项基金(桂科ZY1949010)。

摘　　要：目的:了解广西玉林地区育龄人群地中海贫血基因类型的分布。方法:采用PCR结合反向斑点杂交和琼脂糖凝胶电泳方法对31769例疑似地中海贫血的育龄人群进行α、β地中海贫血基因检测分析。结果:31769例疑似地中海贫血的育龄人群中检出22254例地中海贫血缺失或突变,检出率达70.05%,其中α地中海贫血、β地中海贫血和α复合β地中海贫血检出率分别为45.86%(14569/31769)、19.45%(6178/31769)和4.74%(1507/31769)。28种α地中海贫血基因类型以--SEA/αα、-α3.7/αα、-α4.2/αα、αCSα/αα和αWSα/αα为主,检出率分别为28.18%、6.29%、3.66%、1.93%和1.89%,并检出罕见基因突变--Thai、HKαα;16种β地中海贫血基因类型以β41-42/βN、β-28/βN、β-17/βN和β654/βN常见,检出率分别为9.41%、3.05%、2.86%和2.18%;93种α复合β地中海贫血基因类型以--SEA/αα、-α3.7/αα复合β41-42/βN常见,检出率分别为1.05%和0.56%。结论:本地区育龄人群中地中海贫血检出率较高,基因类型具有多样性,α地中海贫血以--SEA/αα为主,β地中海贫血以β41-42/βN常见,该结果可为地中海贫血干预和临床咨询提供依据。Objective:To investigate the genotype distribution of thalassemia in the population of childbearing age in Yulin area.Methods:The polymerase reaction(PCR)combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detected theα-andβ-thalassemia gene in 31769 cases of suspected thalassemia population at childbearing-age.Results:A total of 22254 cases were identified as thalassemia gene detetion or mutation in 31769 cases with a detecting rate of 70.05%,and the detecting rate ofα-thalassemia,β-thalassemia andα-combiningβ-thalassemia were 45.86%(14569/31769),19.45%(6178/31769)and 4.74%(1507/31769)respectively.28 kinds ofα-thalassemia gene mutations were detected,the common mutations were as follows:--SEA/αα(28.18%),-α3.7/αα(6.29%),-α4.2/αα(3.66%),αCSα/αα(1.93%)andαWSα/αα(1.89%),and including two rare gene mutations:-Thai and HKαα.16 kinds ofβ-thalassemia gene mutations were detected,the common mutations were as follows:β41-42/βN(9.41%),β-28/βN(3.05%),β-17/βN(2.86%)andβ654/βN(2.18%).93 kinds ofαcombiningβ-thalassemia gene mutations were detected,the common mutations were as follows:--SEA/αα(1.05%)and-α3.7/αα(0.56%)combiningβ41-42/βN.Conclusion:The detection rate of thalassemia gene is high in Yulin caildbearing-age population,and there is diversity in mutation spectrums of thalassemia.The most common genotypes are--SEA/ααinα-thalassemia andβ41-42/βN inβ-thalassemia.The results are beneficial for the intervention and genetic consultation of thalassemia.

关 键 词：地中海贫血 育龄人群 基因表型 基因突变 

分 类 号：R556.61[医药卫生—血液循环系统疾病]