汕头地区4133例α-地中海贫血基因分型检测结果分析  

Analysis of results of 4133 cases of thalassemia genotyping detections in Shantou area

作　　者：陈暖[1] 彭学宏[2] 张俏忻[1] 程碧珍[1] 

机构地区：[1]汕头大学医学院第一附属医院检验科,广东汕头515041 [2]汕头大学医学院第一附属医院心胸外科

出　　处：《中国校医》2015年第3期202-203,205,共3页Chinese Journal of School Doctor

摘　　要：目的研究广东省汕头地区α-地中海贫血基因类型分布特征。方法应用基因诊断技术对4133例受检者进行α-地中海贫血基因检测,并对检测结果进行分析。结果 4 133例受检者共检出931例α-地中海贫血患者,阳性检出率为22.53%,其中东南亚缺失型杂合子(αα/(--SEA)712例(76.48%),右缺失型杂合子(-α3.7/αα)171例(18.37%),左缺失型杂合子(αα/-α4.2)48例(5.16%),右缺失型纯合子(-α3.7/-α3.7)1例(0.11%),双重缺失杂合子42例,其中:-α3.7/--SEA34例(3.65%),-α4.2/--SEA6例(0.64%),-α3.7/-α4.22例(0.21%)。结论汕头地区是一个α-地中海贫血的高发区,有规划地进行地区人群筛查、遗传咨询、婚前检查及产前诊断具有重大的意义。Objeaive To probes the distribution features of a-thalassemia genotypes in Shantou area of Guang dong Province. Method By using the genetic testing technology, 4 133 people were deteaed for a-thalassemia gene, and the results were analyzed. Result Among the 4 133 persons who received the deteaions, 931 persons were a- thalassemia patients, and the positive rate was 22.53%, and in which, 712 cases were southeast deletion type heterozy- gore （aa/-sEA, 76.48%）; 171 were right-deletion type heterozygote （-a37/aa, 18.37%）; 48 cases were left-deletion type heterozygote （aa / _a42, 5.16%）; one ease was right-deletion type homozygote （- a3.7 / -a3.7, 0.11%）; 42 cases were double deletion type heterozygote, including -a37 / - SEA34 cases （3.65%）, _a4.2 / _SEA6 cases （0.64%）, - a37 / _a4.22 cases （0.21%）. Conclusion Shantou is an area with high incidence of a-thalassemia. Therefore, the planning regional pop- ulation screening, genetic counseling, premarital examination and prenatal diagnosis are of great significance.

关 键 词：Α-地中海贫血 基因分型技术 

分 类 号：R446[医药卫生—诊断学]