中缅边境疟疾流行区常见血红蛋白病基因突变谱分析  

Analysis of gene mutations spectrum identification of common hemoglobinopathies in malaria-endemic areas along China-Myanmar border

作　　者：江伟阳 易浩安 唐健 李宏[1] 杨芳[1] 何永蜀[1] JIANG Weiyang;YI Hao′an;TANG Jian;LI Hong;YANG Fang;HE Yongshu(Department of Cell Biology and Medical Genetics,Kunming Medical University,Kunming,Yunnan 650500,China;Department of Medical Genetics and Prenatal Diagnosis,Kunming City Maternal and Child Health Hospital,Kunming,Yunnan 650031,China)

机构地区：[1]昆明医科大学细胞生物学与医学遗传学系,昆明650500 [2]云南省昆明市妇幼保健院医学遗传与产前诊断科,650031

出　　处：《重庆医学》2020年第15期2487-2490,共4页Chongqing medicine

基　　金：国家自然科学基金项目(31760308)。

摘　　要：目的调查中缅边境云南省德宏州盈江县那邦镇景颇族和腾冲市汉族常见血红蛋白病的携带率及基因突变谱,探讨上述疟疾流行区人群血红蛋白病的流行现状及与疟疾自然选择的关系。方法用PCR直接测序和缺口PCR(GAP-PCR)方法对标本进行β珠蛋白基因突变和缺失型α-珠蛋白生成障碍性贫血检测。结果719例景颇族标本中有320例进行缺失型α-珠蛋白生成障碍性贫血检测,发现α-珠蛋白生成障碍性贫血携带者25例,携带率为7.81%,变异型包括-α^3.7/αα(18/320,5.62%)、-α^3.7/-α^3.7(6/320,1.87%)和--sea/αα(1/320,0.31%);对所有标本进行β珠蛋白基因突变检测,发现HbE(β^26 Glu→Lys,GAG→AAG)携带者113例,携带率为15.72%,包括:β^E/β^A(95/719,13.21%),β^E/β^E(18/719,2.50%)。1016例腾冲汉族中发现缺失型α-珠蛋白生成障碍性贫血携带者54例,携带率为5.31%,包括:-α^3.7/αα(49/1016,4.82%),--sea/αα(5/1016,0.49%),发现HbE携带者35例,携带率为3.44%,仅发现β^E/β^A杂合子。结论中缅边境景颇族、汉族人群血红蛋白病基因型以缺失型α-珠蛋白生成障碍性贫血携带者(-α^3.7/αα)和HbE为主,可能与疟疾自然选择和地理隔离有关。Objective To investigate the carrying rate and gene mutations spectrum of common hemoglobinopathies of Jingpo ethnicity in Nabang town,Yingjiang county,Dehong prefecture and Han ethnicity in Tengchong city,Yunnan province along China-Myanmar border,and to explore the relationship of hemoglobinopathies and malaria natural selection in the malaria-endemic regions.Methods Direct PCR sequencing and GAP-PCR are used to identifyβ-globin gene mutations and deletionalα-thalassemia.Results Of the 719 Jingpo ethnicity samples,320 samples were carried out for deletionalα-thalassemia,and 25 samples were identified with deletionalα-thalassemia carriers,with the rate of 7.81%including-α^3.7/αα(18/320,5.62%),-α^3.7/-α^3.7(6/320,1.87%)and--sea/αα(1/320,0.31%).All the samples were carried out forβ-globin gene mutations,113 samples were found to be carriers of HbE(β^26 Glu→Lys,GAG→AAG),with the rate of 15.72%,includingβ^E/β^A(95/719,13.21%),β^E/β^E(18/719,2.50%).Of 1016 samples of Han ethnicity population from Tengchong city were carried out for above study,54 samples were found to carry deletionalα-thalassemia with rate of 5.31%,including-α^3.7/αα(49/1016,4.82%),--sea/αα(5/1016,0.49%),35 samples were identified to carry HbE withβ^E/β^A heterozygote with the incidence of 3.44%.Conclusion-α^3.7/ααand HbE are the prevalence gene mutation in the above two regions,which may be related to the natural selection of malaria and geographical isolation of the population.

关 键 词：血红蛋白病 突变 景颇族 汉族 中缅边境 

分 类 号：R394.5[医药卫生—医学遗传学]