中山市户籍人群中α-地中海贫血的分子流行病学调查  

Molecular epidemiology survey of α-thalassemia in Zhongshan city

作　　者：张翠梅[1] 王莹[2] 高建慧[3] 廖加洛[1] 冯华俊[1] 万波[2] 万志丹[4] 黄国智[5] 

机构地区：[1]南方医科大学附属中山市博爱医院儿童保健科,广东中山528403 [2]南方医科大学附属中山市博爱医院妇产科,广东中山528403 [3]南方医科大学附属中山市博爱医院医务科,广东中山528403 [4]南方医科大学附属中山市博爱医院检验科,广东中山528403 [5]南方医科大学附属中山市博爱医院信息科,广东中山528403

出　　处：《中国儿童保健杂志》2010年第5期361-364,共4页Chinese Journal of Child Health Care

基　　金：广东省医学科研基金立项课题(2008824);中山市专项规划及调研课题;中山市科技局项目(20082A120)

摘　　要：【目的】分析中山市户籍人群中α-地中海贫血的分子流行病学特征,为有效预防提供参考依据。【方法】以分层抽样采集2500例中山市户籍新生儿脐血,用HPCE测定HbBart's作为诊断α-地贫的阳性参考指标,对阳性样品用gap-PCR和RDB法进行α-地贫基因分型,并在所有被检样品中进行两种常见静止型α-地贫基因(-α3.7/和-α4.2/)的分子筛查。对未知突变进行PCR产物直接测序法、MLPA及家系表型分析等。【结果】在2500例脐带血样本中,经基因检测,255例被确诊为α-地贫基因型(含258个突变等位基因)。检出HbBart's阳性样品183例,有83例α3.7/αα、α4.2/αα和2例-SEA/αα基因携带者检出自HbBart's阴性样品中。中山市户籍人群中α-地贫基因携带率为10.32%(258/2500);4种已知α-地贫基因的构成比依次为54.65%(-SEA/)、33.33%(α3.7/)、11.24%(α4.2/)和0.78%(αCSα/)。【结论】中山市户籍人群中α-地贫基因携带率高,检出4种基因突变类型(-SEA/、-α3.7/、-α4.2/和αCSα/),以-SEA/为主,开展α-地贫的预防工作具有重要意义。[Objective] To investigate the carrier rate and mutation spectrum of α-thalassemias in population at Zhongshan city. and provide evidences for effective prevention. [Methods] Stratified sampling was used. 2 500 umbilical cord blood samples from neonates were collected in Zhongshan city for molecular epidemiology survey of α-thalassemia. The high performance capillary electrophoresis（HPCE） were carried out on all of the samples. The Hb Bart＇s〉0 was considered as α-thalassemia positive. Gene analysis were performed to accurately diagnosis the phenotypie positive samples by using the Gap-PCR and RDB method. In addition, the -α3.7/and-α4.2 /alleles, were defined in all umbilical cord blood samples for diagnosis of α-thalassemia silent carrier. Those unknown samples were characterized by DNA sequence analysis, multiplex ligation-dependent probe amplification （MLPA） and family analysis. [Results] 183 subjects with Hb Bart＇s positive were tested from the 2 500 umbilical cord blood samples. By gene analysis, the α-thalassemia genotypes of 255 individuals （258 mutation alleles） were identified. It was noticeable that 83 carriers of -α3.7/αα or -α4.2/αα and 2 carriers of SEA /αα were detected from Hb Barfs negative samples. The α-thalassemia carrier rate of population in Zhongshan city was 10.320/ （258/2 500） . The constituent ratios of four types of α-thalassemia mutation were 54.65% （-SEA/）, 33. 33% （α3.7 /）, 11. 24% （α4.2/） and 0.78% （αCSα/）. [Conclusions] The carrier frequency of α-thalassemias in population at Zhongshan city is high. Four types of α-thalassemia mutation（-SEA/、-α3.7/、-α3.7/、-α4.2nd αCSα/）are found. The constituent ratio of SEA/ is the highest. It should be useful for controlling thalassemias at Zhongshan city.

关 键 词：Α-地中海贫血 基因频率 流行病学 分子 

分 类 号：R725.5[医药卫生—儿科]