检验医学与临床2018，Vol.15Issue(13)：1872-1874,3.DOI:10.3969/j.issn.1672-9455.2018.13.002
贵阳地区健康体检人群珠蛋白生成障碍性贫血的筛查及基因型分析
Screening and genetic diagnosis of thalassemia in health check-up population in Guiyang
摘要
Abstract
Objective To investigate carrier rate and gene mutation of thalassemia in health check-up popu-lation in Guiyang .Methods A total of 3 561 persons with a routine health check-up were selected for blood tests to obtain suspected cases of thalassemia ,then Gap-PCR and RDB (reverse dot blot hybridization) were performed to analyze α-& β-thalassemia mutations .Results 196 suspected cases of thalassemia were obtained and further genetic analysis results showed that 131 cases were thalassemia and the carrier rate was 3 .68%(131 out of 3 561).Among those diagnosed thalassemia ,65 cases were α-thalassemia with a frequency of 1 .83%(65 out of 3 561) and the most common found was--SEA/αα ,60 cases were β-thalassemia with a fre-quency of 1 .68%(60 out of 3 561) and the major mutations were βCD41-42 and βCD17,6 cases were α and β com-pound thalassemia with a frequency of 0 .17%(6 out of 3 561).Conclusion The carrier rate of thalassemia is 3 .68% in health check-up population from Guiyang .The prevalence of α-thalassemia is higher than β-thalasse-mia ,and the types of gene mutation are consistent with previous reports .In addition ,routine health check-up population were studied in this paper ,it will not only truly reflect the carrier rate of thalassemia but also bene-fit for marriage and childbirth guidance and the design of a screening strategy for the control of thalassemia .关键词
珠蛋白生成障碍性贫血/携带率/健康体检/贵州Key words
thalassemia/carrier rate/health check-up population/Guizhou分类
医药卫生引用本文复制引用
曾强武,刘琼,严雪梅,王琨,张望明,聂映..贵阳地区健康体检人群珠蛋白生成障碍性贫血的筛查及基因型分析[J].检验医学与临床,2018,15(13):1872-1874,3.基金项目
贵州省科技合作计划项目(黔科合LH字[2015]7282号) （黔科合LH字[2015]7282号）
