Analysis of Gene Mutation Types of Thalassemia in Fuzhou Area of China

题目: 中国福州地区地中海贫血基因突变类型分析. 目的: 了解福州地区α、β-地中海贫血基因突变类型及分布. 方法: 对2013年7月-2018年3月在我院进行体检、产检、孕前检查及疑似地中海贫血人群，采用Gap-PCR及RDB-PCR的方法检测α-或β-地中海贫血基因. CONCLUSION: The genotype of thalassemia in Fuzhou area is highly heterogenic, --SEA/αα is the most common genotype among α-thalassemia, IVS-2-654 (C→T) is the most common genotype among β-thalassemia, Meanwhile, two α-mutation sites are found in this study which were not reported in the Database of Human Hemoglobin Variants and Thalassemias. 结论: 福州地区地中海贫血基因类型复杂多样，α-地中海贫血以--SEA/αα基因型最为常见，β-地中海贫血则以IVS-2-654（C→T）最为常见，并发现了2种人类异常血红蛋白地贫库上未见报道的新α突变位点.