中国全科医学2012，Vol.15Issue(23)：2677-2678,2.DOI:10.3969/j.issn.1007-9572.2012.08.061
深圳市地中海贫血患者基因诊断结果分析
Thalassemia in Shenzhen:A Genotypic Analysis of 189 Cases
摘要
Abstract
Objective To investigate the genotypes of thalassemia in childbearing age population in Shenzhen city to provide information for prenatal diagnosis and disease prevention. Methods Venous blood was extracted from 254 suspected patients with thalassemia to determine 3 kinds of common gene deletions by Gap - PCR and 17 common gene mutations by PCR combined with reverse spot hybridization. Results A total of 189 cases were diagnosed as thalassemia including 120 cases ( 63. 5% ) of which were identified α - thalassemia, 64 cases ( 33. 9% ) were identified β - thalassemia and 5 cases were mixed thalassemia ( 2. 6% ). 1ll cases ( 70. 3% ) of - SEA, 33 cases ( 20. 9% ) of - α3.7 , 14 cases ( 8. 9% ) of -α4.2 were detected in 120 cases of α - thalassemia, respectively. - SEA/αα was the most common gene deletion ( 73 cases, 60. 8% ). 20 cases (31.3% ) of CD41~42 , 14 cases (21.9% ) of CD17, 14 cases (21. 9% ) of ⅣS - Ⅱ -654, 6 cases (9.4% ) of -28, 5 cases ( 7. 8% ) of CD43, 3 cases ( 4. 7% ) of CD71 ~72, 2 cases ( 3. 1% ) of |3E in 64 cases of β - thalassemia, respectively. Conclusion - SEA/ is the most common thalassemia genotype in Shenzhen city. CD41~42 is the common point mutation. A new MLPA detection technology platform should be set up for uncommon or rare types of deletions.关键词
地中海贫血/基因诊断/基因突变Key words
Thalassemia/ Genetic diagnosis/ Gene mutation分类
医药卫生引用本文复制引用
张莉,叶国永,黄国珍,黄伟忠,唐景云..深圳市地中海贫血患者基因诊断结果分析[J].中国全科医学,2012,15(23):2677-2678,2.基金项目
2011年深圳市科技计划项目(201103330) （201103330）
