摘要
目的:探讨云南省两个边境地区傣族人群β-地中海贫血基因突变类型构成。方法:对来源于德宏和西双版纳的傣族人群应用血红蛋白和血常规检测筛查地中海贫血,以YCR-RDB技术(反向点杂交技术)检测β-也中海贫血基因突变,分析比较两地傣族人群β-地中海贫血基因突变类型构成比。结果:确诊186例β-地中海贫血患者的基因突变,共检出10种突变类型,以CD26(62.56%),CD41-42(18.97%),CD17(14.36%),CD71-72(2.05%),IVS-Ⅱ-654(1.54%)5种突变为主。在德宏地区傣族人群中检出4种突变类型,为CD26(80.31%),CD17(11.02%),CD4142(6.30%)和CD71-72(2.36%),在西双版纳地区傣族人群检出6种突变类型,以CD41-42(42.64%),CD26(29.41%),CD17(20.59%)为多见。结论:β-地中海贫血基因突变在云南省傣族人群中存在较大遗传异质性,不同地区的傣族人群有明显差异。
Objective:To investigate the gene mutation spectrum of β-thalassemia in Dai ethnic population of 2border region in Chinese Yunnan Province.Methods:The patients with β-thalassemia in Dai ethnic population of Dehong and Xishuangbanna autonamic prefecture were screened by using blood routine detection and capillary electrophoresis.The β-globin gene mutation in patients with β-thalassemia were detected by using PCR reverse dot-blot hybridization(PCR-RDB),the constitutive rate of gene mutation in patients with β-thalassemia of Dai ethnic population in two border regions was analyzed and compared.Results:A total of 186 patients with gene mutation of β-thalassemia were confirmed.Among them,10 gene mutation were found,and the 5 main gene mutations were CD26(62.56%),CD41-42(18.97%),CD17(14.36%),CD71-72(2.05%) and IVS-Ⅱ-654(1.54%).Among Dai ethinic population in Dehong region,4 gene mutations were found including CD26(80.31%),CD17(11.02%),CD41-42(6.30%) and CD71-72(2.36%).Among Dai ethinic population in Xishuangbanna region,6 gene mutations were found,out of them the more common gene mutations were CD41-42(42.64%),CD26(29.41%) and CD17(20.59%).Conclusion:The gene mutations of β-thalassemia in Dai ethinic population of Yunnan province has been confirmed to be more genetic heterogenicity,the spectrums of β-thalassemia mutations in Dai ethinic population of different regions were significant different.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2016年第1期157-161,共5页
Journal of Experimental Hematology
基金
国家自然科学基金地区基金项目(81260415)
云南省科技厅-昆明医学院联合专项(2011FB164
2011FB224)
关键词
Β-地中海贫血
云南省
遗传异质性
傣族人群
β-thalassemia
Yunnan province
Genetic neterogenicity
Dai ethinic population
