广西河池地区育龄人群地中海贫血基因类型及民族分布特征  

Genotype and ethnic distribution characteristic of thalassemia in people of childbearing age in Hechi,Guangxi Zhuang Autonomous Region

作　　者：韦帅 黄强[1,2] 蓝晨 韦春逢[1,2] 黄永健 陈高 WEI Shuai;HUANG Qiang;LAN Chen;WEI Chunfeng;HUANG Yongjian;CHEN Gao(Department of Clinical Laboratory,the People’s Hospital of Hechi,Hechi,Guangxi 547000,China;Department of Clinical Laboratory,Hechi Hospital Affiliated of Youjiang Medical University of Nationalities,Hechi,Guangxi 547000,China)

机构地区：[1]河池市人民医院检验科,广西河池547000 [2]右江民族医学院附属河池医院检验科,广西河池547000

出　　处：《中国优生与遗传杂志》2022年第10期1854-1857,共4页Chinese Journal of Birth Health & Heredity

基　　金：右江民族医学院校级课题(yy2021sk083);广西壮族自治区卫生健康委员会重点实验室开放课题(GXHCFM2021009)。

摘　　要：目的 了解河池地区育龄人群地中海贫血基因类型和民族分布特征。方法 采用Gap-PCR和PCR-反向点杂交法,对2019年1月至2021年12月在河池市人民医院医学生殖中心就诊的河池户籍育龄人群血液样本进行地贫基因检测,并对结果进行统计学分析。结果 1166份样本检测结果显示,地贫基因阳性率为27.27%(318例),其中α-地贫基因占18.87%(220例),β-地贫基因占6.52%(76例),α/β-地贫基因占1.89%(22例)。α-地贫以--SEA/αα(34.71%)、-α^(3.7)/αα(32.23%)和αα^(CS)/αα(16.94%)为主;β-地贫以41-42M/N(44.9%)和17M/N(43.88%)为主。送检样本中共有壮族812例,地贫基因阳性率为29.43%(239例);汉族205例,地贫基因阳性率为20.00%(41例);毛南族48例,地贫基因阳性率为33.33%(16例);瑶族46例,地贫基因阳性率为19.57%(9例);壮族、毛南族人群阳性率与汉族人群相比,差异具有统计学意义(P<0.05),瑶族人群阳性率与汉族人群相比,差异无统计学意义(P>0.05)。结论 河池地区壮族、毛南族育龄人群地贫基因阳性率高,与汉族人群阳性率相比具有显著性差异。Objective To understudy the genotype and ethnic distribution characteristic of thalassemia(thal) in people of childbearing age in Hechi, Guangxi Zhuang Autonomous Region. Methods Gap-pcr and RDB-pcr were used to confirm the genotype of thalassemia in childbearing-age population in Hechi from January 2019 to December 2021, and the results were performed statistics analysis. Results 27.27%(318 cases) of 1166 cases were identified as thalassemia gene, of which 18.87%(220 cases) were α-thal, 6.52%(76 cases) were β-thal and 1.89%(22 cases) were α-thal combined β-thal. The main types of α-thal were--SEA/αα(34.71%),-α^(3.7)/αα(32.23%) and αα^(CS)/αα(16.94%). The main types of β-thal were 41-42M/N(44.9%) and 17M/N(43.88%). 29.43%(239 cases) of Zhuang nationality in 812 cases, 20.00%(41 cases) of Han nationality in 205 cases, 33.33%(48 cases) of Maonang nationality in 48 cases and 19.57%(9 cases) of Yao nationality in 46 cases were identified as thalassemia gene. Respectively,compared with Han nationality, the difference of the total carrying rate had statistical significance(P<0.05) for Zhuang nationality and Maonan nationality, but had no statistical significance(P>0.05) for Yao nationality. Conclusion The total carrying rate of thalassemia gene in childbearing-age population of Zhuang nationality and Maonan nationality is still high in Hechi, and compared with Han nationality, the difference had statistical significance.

关 键 词：地中海贫血 基因型 育龄人群 少数民族 河池 

分 类 号：R556.61[医药卫生—血液循环系统疾病]