中山大学学报（医学科学版）2012，Vol.33Issue(4)：553-557,5.
深圳地区育龄人群地中海贫血基因型分布调查
A Survey on Distribution of Thalassemic Genotypes in Reproductive Population in Shenzhen
摘要
Abstract
[Objective] To investigate the genotype distribution of both a- and β-thalassemia in Shenzhen city.[Method] Couples in the reproductive age were screened by detection of mean corpuscle volume (MCV), mean corpuscle hemoglobin (MCH) and electrophoresis of hemoglobin. A total of 6276 positive samples were detected and further identified by PCR and Reverse dot blot hybridization (RDB) for the genotype of thalassemia. Samples with positive phenotypes but without common gene mutations were analyzed by ONA sequencing technology. [Result] 2129 samples with 11 kinds of α-thalassemia gene mutations were detected from 5503 high risk individuals. The three most common mutations were as follows; —SEA/αα (76.84%), -α3.7αα (15.12%) and -α42/ αα (5.26%). 1059 samples with 14 kinds of β-thalassemia gene mutations were detected from 2947 high risk individuals. The six most common mutations were as Mows; β41-42(-TCTT), βIVS-2-654(C→T), βCDI7(A→T), β-28(A→T), βCD26(G→A), βCD71/72(+A), and its total percentage was 94.71%. A rare β-thalassemia gene mutation was detected from a Guangxi patient for the first time: CD37mutation (G→A), which was only found in Cantonese and Afghan before. [Conclusion] The characteristics of a-, β-thalassemia genotype in Shenzhen were consistent with that in Guangdong province.关键词
地中海贫血/基因突变/分子流行病学Key words
thalassemia/ gene mutation/ molecular epidemiology分类
医药卫生引用本文复制引用
袁晖,吴维青,吴晓霞,李辉,谢建生..深圳地区育龄人群地中海贫血基因型分布调查[J].中山大学学报（医学科学版）,2012,33(4):553-557,5.基金项目
深圳市科技计划项目(医疗卫生类)重点项目(201001016) （医疗卫生类）
