琼海市育龄人群地中海贫血筛查及基因分析  

Screening and genetic analysis on thalassemia among reproductive population in Qionghai city

作　　者：许少珍[1] 吴玉[1] 孙有刚[1] 陈春宝 何雪葵[3] 

机构地区：[1]琼海市妇幼保健院,海南琼海571400 [2]海南主健分子医学研究所,海南海口570206 [3]广州金域医学检验中心,广东广州510330

出　　处：《中国热带医学》2015年第2期234-235,240,共3页China Tropical Medicine

摘　　要：目的了解琼海地区育龄人群中α、β地中海贫血基因型的分布情况。方法对育龄夫妇采用红细胞平均体积(MCV)和红细胞脆性一管法进行地中海贫血筛查,对992例筛查阳性者采用PCR及反向斑点杂交技术进行α、β地中海贫血基因型诊断。结果从11 753人中筛选出阳性者992人,阳性检出率为8.44%,其中检出α地中海贫血647例,基因携带率为5.50%,常见的α地中海贫血基因型--SEA/αα、-α3.7/αα、-α4.2/αα构成比例分别为55.79%、16.85%、10.36%。检出β地中海贫血基因型9种共302例,基因携带率为2.57%。比较常见的5种基因型为β41-42(-TCTT)、β-28(A→T)、βCD17(A→T)、βIVS-Ⅱ-654(C→T)、βCD71-72(+A),共占97.02%。在本次筛查中,汉族地中海贫血基因携带率为6.41%,苗族为15.63%,黎族为27.25%,壮族10.53%。结论琼海地区地中海贫血基因携带率高,针对育龄人群基因筛查对降低地中海贫血患儿出生率,提高人口质量具有重要意义。Objective To study the genotype of α- thalassemia and β- thalassemia in reproductive population inQionghai City of Hainan province. Methods Screening of thalassemia was conducted among childbearing age couples byusing mean corpuscular volume（MCV） and simple tube cell osmotic fragility quantitative test. Then,molecular analysis of Gap-PCR and reverse dot blot were used to confirm the 992 positive samples. Results Totally 992 positive samples werescreened out from the 11 752 perticipants,with the positive screening rate of 8.44%.The α-thalassemia was observed in 647 cases with a carrying rate of 5.50%. The most common genotypes of α-thalassemia were（--^SEA/αα）,（-α^3.7/αα）and（-α^4.2/αα）,accounting for 55.79%,16.85% and 10.36%,respectively. The β-thalassemia occurred in 302 samples in 9 types,with a genecarrying rate of 2.57%. The most common types of mutation were β41-42（-TCTT）,β-28（A→T）,βCD17（A→T）,βIVS-Ⅱ-654（C→T） and βCD71-72（＋A）,totally accounting for 97.02% of all types.The gene carrying rates of thalassemia among Han,Miao,Li and Zhuang nationalities were 6.41%,15.63%,27.25% and 10.53%,respectively. Conclusions The incidence ofthalassemia in Qionghai city was very high. Thus screening of the disease among reproductive population is of importance toprevent the birth of child with thalassemia.

关 键 词：地中海贫血 基因型 筛查 

分 类 号：R556.61[医药卫生—血液循环系统疾病]