摘要
目的探究重庆渝东北地区人群地中海贫血流行现状及基因型分布特征。方法收集2018年9月—2020年8月该地区2879例适龄青壮年的资料;采用柱子法,提取基因组DNA;采用跨跃断裂点PCR(GAP-PCR)的技术原理检测α-地中海贫血基因突变;PCR-DNA反向点杂交法检测β-地中海贫血突变基因。结果共检出地中海贫血患者170例,患病率为5.90%,女性166例,患病率为5.91%,男性4例,患病率为5.71%;检出α、β-地中海贫血基因突变170例,突变率为5.90%,复合缺失突变4例,突变率为0.14%。α-型共106例,其中-a~(SEA)/aa、-a~(3.7)/aa、-a~(4.2)/aa较多,占比37.74%、46.21%、13.20%;β-型共63例,其中CD17(AAG→TAG)、CD41-42(-TTCT)型检出较多,占比38.11%、30.16%;检出-α3.7型基因缺失杂合及IVS-II-654(C→T)型基因1例。结论α、β型地中海贫血在重庆渝东北地区发病率较高,主要为-a~(SEA)/aa、-a~(3.7)/aa、-a~(4.2)/aa、CD17、CD41-42型基因突变,为产前遗传咨询及基因诊断提供相应依据。
Objective To explore the current status of thalassemia and the distribution characteristics of genotype distributions in the population in northeast Chongqing.Methods Data of 2879 young and middle-aged adults in the region from September 2018 to August 2020 were collected;Genomic DNA was extracted by column method;The method of GAP-PCR was used to detectα-thalassemia gene mutation;PCR-DNA reverse dot blot was used to detect the DNA contentβ-thalassemia gene mutation.Results A total of 170 cases of thalassemia were detected,the prevalence rate was 5.90%,166 cases were female,the prevalence rate was 5.91%,4 cases were male,the prevalence rate was 5.71%;170 cases ofα-thalassemia andβ-thalassemia gene mutations were detected,with mutation rate of 5.90%,and 4 cases of combined deletion mutation were observed,with mutation rate of 0.14%.Alpha type was observed in 106 cases,mainly including-a~(SEA)/aa,-a~(3.7)/aa,-a~(4.2)/aa,accounting for 37.74%,46.21%,13.20%;β-type was detected in 63 cases,mainly including CD17(AAG→TAG)and CD41-42(-TTCT),accounting for 38.11%and 30.16%.One case of-α3.7 gene deletion heterozygote and one case of IVS-II-654(C→T)gene were detected.Conclusion The incidence ofαandβthalassemia is high in the northeast of Chongqing,which are mainly-a~(SEA)/aa,-a~(3.7)/aa,-a~(4.2)/aa,CD17,CD41-42 gene mutations,which provide corresponding basis for prenatal genetic counseling and gene diagnosis.
作者
丁欢
黎亮
李迎春
DING Huan;LI Liang;LI Ying-chun(Clinical Laboratory,Zhongxian County People's Hospital,Chongqing 404300,China;不详)
出处
《中国卫生检验杂志》
CAS
2022年第2期212-214,218,共4页
Chinese Journal of Health Laboratory Technology
关键词
地中海贫血
流行现状
基因型分布
Thalassemia
Epidemic status
Genotype distribution
