钦州市4304例地中海贫血基因诊断结果

Genetic diagnosis of 4 304 thalassemia cases in a coastal area of Qinzhou city

目的了解地处南方沿海地区的钦州市人群地中海贫血突变基因构成比。方法以来医院进行产前检查的孕妇夫妻中,夫妻一方或双方地中海贫血筛查阳性,自愿进行地中海贫血产前基因分析者为研究对象。基因型确诊运用PCR法或PCR结合反向点杂交(RDB)技术进行地中海贫血常见突变分析。结果在4 304例筛查人群中,经基因诊断后,确诊为地中海贫血基因携带者3 033例,检出α地中海贫血基因携带者1 848例,β地中海贫血基因携带者904例,β地中海贫血复合α地中海贫血基因携带者281例。3种常见α地中海贫血缺失型基因的突变频率是:--SEA占63.22%;-α3.7占12.45%,-α4.2占7.14%;3种常见的α地贫非缺失型基因的突变频率是:ααWS/αα占5.35%、ααCS/αα占3.8%,ααQS/αα占1.46%;检出13种β基因突变类型,其中7种常见β基因突变类型的构成比是:41-42M占44.64%,17M占22.79%,-28M占9.9%,654M占7.85%,βBE占6.92%。71-72M占4.22%,IVS-1-1M占1.56%,其他均在1%以下。此次检测还发现了形式多种的复合型地中海贫血基因携带者,除α地贫复合β地贫基因携带者外,还有各种缺失型复合非缺失型地贫基因携带者,如-SEA/ααCS,-α4.2/ααWS,-α3.7/ααCS9,-SEA/ααWS,-α3.7/ααWS,-α4.2/ααCS,-α3.7/ααQS等基因型。结论本研究获得了地处我国南方沿海的广西钦州市人群的地中海贫血基因突变谱的分布特点,为钦州市开展地贫人群遗传咨询、产前诊断和预防计划提供了有价值的资料。

Objective To understand the constituent ratios of thalassemia mutation gene in Qinzhou City,a coastal area.Methods The hasband or wife or the couples positive for thalassemia detected during voluntarily seeking medical consultation in the hospital were selected genetic mutation analysis by using PCR or PCR combined with reverse dot blot（RDB） technology.Results Totally 4 304 persons were screened and 3 033 thalassemia carriers were detected including 1 848a-Mediterranean α–gene carriers and 904 β–thalassemia gene carriers and 281α,β-thalassemia gene carriers.Three common a-thalassemia deletion mutation frequency were--SEA（63.22%）;-a 3.7（12.45%）and-a4.27（14%;3）.Three common a-thalassemia nondeletion mutation frequency were ααWS /αα（5.35%）,ααCS /αα（8%） and ααQS /αα（1.46%）;13 beta gene mutation were detected and the constituent ratio of 7 commonβ-thalassemia gene mutation types were 41-42（44.64%） 17 M（22.79%）and 28M（9.9%）,654M（7.85%）βBE（6.92%）71-72M and（4.22%）.IVS-1-1M accounted for 1.56% and under 1% for others.The detection was found in a variety of forms of thalassemia gene carriers,including-SEA genotypeof/ααCS,-α4.2/ααWS,-α3.7/ ααCS9,-SEA/ααWS,-α3.7/ααWS,-α4.2/ααCS,-α3.7/ααQS etc.Conclusion The distribution features of genetic mutation of thalassemia in coastal area of Qinzhou City have been revealed to have provided valuable information for thalassemia consultation,prenatal screening and prevention of the disease.