摘要
目的调查顺德地区α-地中海贫血基因的携带率、基因突变类型及其频率分布。方法采集顺德地区1000例新生儿脐带血进行HbBart’s检测。HbBart’s阳性标本进行缺失型基因(--SEA/、--3.7/和--4.2/)检测,阴性者采用膜反向杂交技术,检测6种非缺失型α-地贫突变位点(αCD30,△GAT;αCD31,G-A;αCD59,G-A;αWS,C-G;αQS,C-G;αCS,C-G)。结果在1000例新生儿脐带血样本中,HbBart’s阳性样品54份,阳性检出率为5.40%。经基因分析,共检出α-地贫基因89例,顺德地区户籍人口的α-地贫基因携带率为8.9%,基因型主要为--SEA/αα、-α3.7/αα两种,占总数的89.89%。结论顺德地区α-地中海贫血基因携带率和基因突变类型与广东其他地区相差不大,在预防中应结合本地实际情况开展。
Objective To investigate the carrying rate of α-thalassemia＇s gene, gene mutation types and frequency distribution in Shunde District. Methods There umbilical cord blood from 1 000 newborns were colected for molecular epidemiologieal survey.Following the criteria for diagnosis of α-thalassemia, the samples positive for Hb Bait should be detected common gene deletion （--^SEA/,-^3.7/and--^4.2/）first, then six non-deletion α-thalassemia mutation points α^CD,△GAT;α^CD31,G-A;α^CD59,G-A;α^WS,C-G;^αQS,C-G;αCS,C-G） negaative for Hb Bart were detected by membrane reverse hybridization technique. The two static-α-thalassemia genes （--^3.7and/--^4.2/） in samples negative for Hb Bart were detected. Results The The positive rate of Hb Bart was 5.4%（54/1000）. After genetic analysis the α-thaJassemia gene carrying rate in shunde was 8.9%（89/1000）. The main genotypes were-SEA/αα and-α^3.7/αα, accounted for 89.89%. Conclusions The α- thalassemia gene carrying rate and the types of gene mutation in Sunde was similar with that in other parts of Guangdong Province.
出处
《中国热带医学》
CAS
2009年第3期426-427,共2页
China Tropical Medicine
基金
广东省佛山市科技局资助项目:项目编号为:20060818
作者简介
梁玉全，（1969～），男，副主任技师，主要从事分子生物检验工作
