佛山市南海区地中海贫血基因类型分析

Analysis on genotypes with thalassemia in Nanhai of Foshan

目的通过调查佛山市南海区地中海贫血基因的基因类型和构成比,了解本地区的地中海贫血基因型的分布,为防控本地区重型地贫的出现提供依据。方法采用gap-PCR法检测--^(SEA)/αα,-α^(3.7)/αα,-α^(4.2)/αα3种常见缺失型α地贫;采用反向斑点杂交法,可以检测α^(QS)α,α^(CS)α,α^(WS)α3种常见突变型α地贫;采用反向点杂交法检测β-地贫常见的17种点突变,包括-29、-28、17、βE、41-42、43、71-72、654、Int、14-15、27/28、Ⅰ-1、Ⅰ-5、31、-30、CAP、-32。结果检测α-地中海贫血缺失型1 359例标本,检出阳性标本490例,阳性率为36.06%(490/1359)。主要缺失类型是--^(SEA)/αα、-α^(3.7)/αα、-α^(4.2)/αα;进行α-地中海贫血突变型检测的有1 210例,阳性率为2.8%(35/1 210)。进行β-地中海贫血突变型检测的有1 073例,阳性率为24.98%(268/1 073),主要类型是CD41-42、IVS-Ⅱ-654、CD17、-28;共检出41例复合型地贫,其中α缺失合并α突变的有4例,α-地贫合并β-地贫有37例。结论本研究为佛山市南海区的遗传咨询和制定该地区人群筛查的地贫预防计划提供了有价值的基础资料。

Objective The study aimed to investigate the genotypic distribution of thalassemia by examining the genotype and composition ratio of the thalassemia gene in the Nanhai district of Foshan city,providing a basis for prevention and control of the emergence of severe thalassemia in the region.Methods gapPCR method was utilized to detect --SEA/αα,-α3.7/αα,-α4.2/αα3 common gene deletions in α gene mutations.Reverse dot blot techniques were applied to detect αQSα,α^（CS）α,α^（WS）α3 common mutation sites in non-missing type α-thalassaemia.The reverse dot blot method was applied to detect 17 common mutation sites in β-thalassaemia,including-29,-28,17,βE,41-42,43,71-72,654,Int,14-15,27/28,Ⅰ-1,Ⅰ-5,31,-30,CAP,and-32.Results 1 359 persons with α-thalassaemia were examined,and the positive rate was 36.0%（490/1 359）.The main missing types were --SEA/αα、-α3.7/αα、-α4.2/αα.1 210 persons with α-thalassaemia nonmissing type were examined,with a corresponding positive rate of 2.8%（35/1 210）.The main types were α^（CS）α/αα,αQSα/αα,and α^（WS）α/αα.1 073 persons with β-thalassaemia mutants were examined.The positive rate was24.98%（268/1 073） and the main types were CD41-42,IVS-Ⅱ-654,CD17,and-28.41 cases of complex gene deletion type were detected,including 4 cases of α deletion combined α mutation and 37 subjects with α-thalassaemia combined β-thalassaemia.Conclusion This study provides valuable basic data for genetic counseling in the Nanhai district of Foshan and to formulate programs for population-based screening for thalassemia prevention.