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目的了解湖南省湘潭地区地中海贫血主要基因类型及频率。方法采用多重Gap-PCR检测人群3种α-地中海贫血缺失,PCR结合RDB技术检测3种α-地中海贫血及17种β-地中海贫血突变。结果在655例地中海贫血基因诊断中,检出α-地中海贫血112例,分别是中间型5例,轻型60例,静止型47例;检出β-地中海贫血114例,均为轻型突变杂合子;同时检出α复合β-地中海贫血4例。α-地中海贫血以东南亚型为主,占53.57%,其次为右缺失型(-α3.7),占26.79%;β-地中海贫血发生率最高的3种基因类型分别为654(50.00%)、41-42(21.93%)、CD17(15.79%)。结论湘潭地区地中海贫血人群以轻型地中海贫血为主,但也有部分血红蛋白H病患者及α复合β-地中海贫血携带者,说明进行规范的生育前筛查及产前诊断,对指导优生优育具有重大意义。
Objective To understand the major types and frequencies of thalassemia in Xiangtan area of Hunan province. Methods Three kinds of α-thalassemia were detected by multiplex Gap-PCR. Three kinds of α-thalassemia and 17 kinds of β-thalassemia were detected by PCR and RDB. Results Among 655 cases of thalassemia, 112 cases of α-thalassemia were detected, including 5 cases of intermediate type, 60 cases of light type and 47 cases of stationary type. Among them, 114 cases of β-thalassemia were detected, all of which were light mutation heterozygotes At the same time, 4 cases of α-β-thalassemia were detected. The prevalence of a-thalassemia was 53.57% in the Southeast Asia, followed by the right deletion (-α3.7), accounting for 26.79%. The highest prevalence of β-thalassemia was 654 (50.00%), 41-42 (21.93%), CD17 (15.79%). Conclusion The prevalence of thalassemia in Xiangtan area is predominant with thalassemia major, but there are also hemoglobin H disease patients and carriers of α-thalassemia intermedia, indicating that standardized antenatal screening and prenatal diagnosis are of great significance in guiding prenatal and postnatal care .