摘要
目的:了解中国福建省龙岩地区α、β地中海贫血的基因突变类型及其分布特征,为本地区地中海贫血产前咨询和产前诊断提供依据,减少出生缺陷。方法:采用平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和血红蛋白电泳进行筛查,阳性者采用跨越断裂点PCR(gap-PCR)技术和DNA反向点杂交芯片技术(reverse dot blot,RDB)进行基因分型检测。结果:7823例血常规阳性受检者中,经血红蛋白电泳筛查初筛阳性2826例,阳性率为36.12%;对其中2710例进行了α、β地中海贫血基因诊断,1905例被确诊为地中海贫血,检出携带率为24.35%。在1905例中α-地中海贫血1225例,携带率为15.66%,基因型主要是—^(SEA)/αα、-α^(3.7)/αα、-α^(3.7)/—^(SEA)、-α^(4.2)/αα,携带率分别为12.91%、1.28%、0.51%、0.74%;β-地中海贫血632例,其携带率为8.08%,基因型主要为654M/N、41-42M/N、17M/N、-28M/N、27-28M/N,携带率分别为3.66%、2.22%、0.78%、0.66%、0.45%;α-地中海贫血复合β-地中海贫血检出48例,携带率为0.61%。结论:中国福建省龙岩地区α、β地中海贫血基因主要突变类型分别为—^(SEA)/αα、654M/N,其在本地区携带率较高,为福建省的地中海贫血高发区,应加强对本地区育龄人群的地中海贫血的筛查和产前的基因诊断工作。
Objective： To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects. Methods： The mean corpuscular volume （MCV）, mean corpuscular hemoglobin （MCH） and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction （gap-PCR） and reverse dot blot hybridization （RDB）. Results： Out of 7823 cases of routine positive blood test, 2826 cases were positive （36.12%） by using hemoglobin electrophoresis; 1905 out of 2710 cases were diagnosed as Mediterranean anemia by genetic test, with 24.35 % of carrying rate; 1225 cases were positive alpha thalassaemia and the carrying rate was 15.66% , their major genetic types were --^SEA/αα、-α^3.7/αα、-α^3.7/--^SEA、-α^4.2/αα, with carrying rate of 12. 91%, 1.28%, 0.51% and 0.74%, respectively; 632 cases were positive β thalassaemia, with carrying rate of 8.08% , the major genotypes were 654M/N,41-42M/N, 17M/N,-28M/N and 27-28M/N and with carrying rate of 3.66% , 2.22% , 0.78% , 0.66% and 0.45%, respectively ; 48 cases were diagnosed as both α- and β- thalassemia, with the carrying rate of 0.61%. Conclusion： The main gene mutation types of α- and β-thalassemia in Longyan area of Fujian Province in China were --^SEA/aa and 654 M/N. As thalassemia gene mutation prevalents in Fujian, the screening of thalassemia genotypes for childbearing age woman has great significance for raising population quality.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2017年第2期498-502,共5页
Journal of Experimental Hematology
