贵州省都匀市布依族中学生地中海贫血基因携带率调查  

Research on the rate of thalassaemia gene carrying in the middle school students of Bouyei Nationality in Duyun city of Guizhou Province

作　　者：黄盛芳 罗盛娟 阮铮艳 孟丽萍 莫承燕 芦平 金维俊 袁平 

机构地区：[1]贵州省都匀市计划生育妇幼保健服务中心,558000

出　　处：《中国计划生育学杂志》2015年第10期667-669,共3页Chinese Journal of Family Planning

摘　　要：目的:了解贵州省黔南州都匀市布依族中学生地中海贫血携带率及常见突变基因类型和频率。方法:对1700名3代以上均为布依族的布依族中学生进行地中海贫血血液学筛查。血液学表型运用迈瑞DC-5390型血细胞分析仪进行检测。对静脉血平均红细胞体积≤82fl和平均红细胞含量≤27pg的436人进行地中海贫血基因检测。结果:在1700人中检出1α-地中海贫血基因缺失184人,基因缺失率10.8%,依次为α-地贫1基因(SEA)(45.1%)、α-地贫2基因(3.7)(39.1%)、α-地贫2基因(4.2)(13.1%)、α-地贫1基因+α-地贫2基因1.63%、α-地贫2基因(3.7+4.2)双重杂合子1.07%。2β-地中海贫血突变基因119人,携带率7.0%,检测突变基因4种,依次为CD17(52.94%)、CD41-42(42.86%)、BE(2.52%)、-28(1.68%)。结论:贵州省都匀市布依族中学生α-地中海贫血基因缺失率10.8%,β-地中海贫血携带率为7.0%。实施群体筛查、遗传咨询、改变旧的婚育观念,指导合理婚配,对预防重症地贫儿的出生,提高出生人口素质,具有深远的意义。Objective： To study the thalassaemia gene carrying rate, common mutation types, and its frequency in mid- dle school students of Bouyei Nationality from Duyun of Qiannan Prefecture in Guizhou Province. Methods： 1700 mid- dle school students who all up to three generations Bouyei people were screened for thalassaemia hematology. Testing haematological phenotype by MINDRAY DC-5390 blood cell analyzer was used. Mediterranean anaemia gene was de- tected in 436 people, whose average red blood cells in venous blood volume were ≤ 82 fl and average content of eryth- rocyte were ≤ 27 pg. Results： In the 1700 students, 184 of them were found the alpha thalassemia gene deletion, rate of 10.8 %, which including alpha thalassemia I gene （SEA） （42.86%）, alpha thalassemia II gene（3.7） （32.2 % ）, alpha thalassemia II gene（4.2 ）（ 13.1 %）, alpha thalassemia and alpha thalassemia II gene（1.63%）, and alpha thalassemia double heterozygote gene（3.7 ＋4.2） （ 1.07 %）. 119 of them were found the beta thalassemia mutation gene, carrying rate of 7% and four kinds of mutation gene were CD17 （52.94%）, D41-42 （42.86%）, BE （2.52%）,-28 （1.68%）. Conclusion： The alpha thalassemia gene deletion rate and the beta thalassaemia carrying rate in BouYei middle school students were 10.8 % and 7 %. It is important for controlling the birth of children with thalassemia major and improving the quality of the newborn by population screening, genetic counseling, the old concept of marriage and childbirth change, and rational marriage guiding.

关 键 词：地中海贫血 携带率 布依族 中学生 遗传 筛查 

分 类 号：R556.61[医药卫生—血液循环系统疾病]