摘要
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 investigate the prevalence of thalassemia gene carried by people in Xiangtan area. Methods： Geneticdiagnosis was performed on the people with α-thalassemia by gap-PCR and on the people with β-thalassemia by PCR- Reverse Dot Blot （PCR-RDB） . Results： 655 samples were screened to be positive, among which there were 112 cases of α-thalassemia carder （17.10%） , 114 cases of β-thalassemia carrier （17.40%） , 4 case of combination thalassanemia （0.61%） .7 types of mutation genotypes were detected in 112 cases of α-thalassemia, the proportions of--αSEA/ααwere 53.57%, the proportions of-α3.7/oLetwere 26.79%. 7 different mutalion were identified in 114 cases of β-thalassemia, there were 14 different gene types. IVS-Ⅱ-654 （C→T） , CD41/42 （-TTCT） and CD17 （A →T） were the most frequent genic mutations. Conclusion： The study may provide a reference for taking effective measures to prevent the birth of children with thalassemia.
出处
《中国优生与遗传杂志》
2016年第8期29-30,共2页
Chinese Journal of Birth Health & Heredity
