摘要
目的了解四川攀枝花地区人群珠蛋白生成障碍性贫血基因突变类型及其分布特征,为产前筛查和产前诊断提供参考依据,降低出生缺陷。方法选取2018年3月~2020年5月来医院就诊的2704例疑似珠蛋白生成障碍性贫血样本,采用PCR结合导流杂交法进行基因确诊。结果在2704例受检者中,共检测出534例珠蛋白生成障碍性贫血患者(携带率为19.75%),其中α-珠蛋白生成障碍性贫血患者314例(58.80%),β-珠蛋白生成障碍性贫血患者206例(38.58%),αβ复合型珠蛋白生成障碍性贫血患者14例(2.62%)。α-珠蛋白生成障碍性贫血检出-α^3.7/-α^3.7,-α^3.7/αα,-α^4.2/αα,--SEA/αα,--SEA/-α^3.7,α^QSα/αα,α^CSα/αα和α^WSα/αα共计8种基因型,以--SEA/αα基因型(138例)和-α^3.7/αα基因型(136例)最多见,分别占43.95%和43.31%。β-珠蛋白生成障碍性贫血检出CD17,-28,-29,CD41-42,CD43,IVS-Ⅱ-654,CD71-72,CAP和βE共计9种基因型,其中βE(56例),CD17(54例)和CD41-42(48例)三种基因型多见,分别占27.18%,26.21%和23.30%。结论四川攀枝花地区人群珠蛋白生成障碍性贫血依次以--SEA/αα,-α^3.7/αα,βE,CD17和CD41-42在内的5种基因型更为多见,构成比具有区域性特征。
Objective To investigate the type and distribution of thalassemia gene mutations in Panzhihua area,so as to provide evidence for prenatal screening,diagnosis and reduction of birth defects.Methods 2704 cases of suspected thalassemia were selected and confirmed by PCR combined with flow-through hybridization from March 2018 to May 2020.Results Among 2704 cases,534 cases were diagnosed with thalassemia(carrying rate was 19.75%),including 314 cases(58.80%)of α-thalassemia,206 cases(38.58%)of β-thalassemia and 14 cases(2.62%)ofα-thalassemia combined with β-thalassemia.A total of 8 genotypes-α^3.7/-α^3.7,-α^3.7/αα,-α^4.2/αα,--SEA/αα,--SEA/-α^3.7,α^QSα/αα,α^CSα/ααandα^WSα/ααwere detected in thisα-thalassemia.The most common ones were--SEA/ααgenotypes(138 cases)and-α^3.7/ααgenotypes(136 cases),which account for 43.95%and 43.31%respectively.A total of 9 genotypes CD17,-28,-29,CD41-42,CD43,IVS-Ⅱ-654,CD71-72,CAP and βE were detected inβ-thalassemia were detected out.Among them,βE(56 cases),CD17(54 cases)and CD41-42(48 cases)were common,which account for 27.18%,26.21%and 23.30%respectively.Conclusion Thalassemia patients in Panzhihua are more common in the five genotypes--SEA/αα,-α^3.7αα,βE,CD17 and CD41-42,and composition ratio has regional characteristics.
作者
吴雪梅
何元虎
张利军
WU Xue-mei;HE Yuan-hu;ZHANG Li-jun(Department of Laboratory Medicine,Maternal and Children Health Hospital of Panzhihua,Sichuan Panzhihua 617000,China)
出处
《现代检验医学杂志》
CAS
2021年第1期47-50,共4页
Journal of Modern Laboratory Medicine
