【摘要】 目的　调查广东韶关市城镇人群中的α 地中海贫血 (简称α 地贫 )的携带率、基因突变类型及其分布特征。方法　抽取韶关市户籍人口的脐带血随机大样本 ,用血红蛋白电泳法检测HbBart’s作为诊断α 地贫的阳性参考指标。对所有HbBart’s阳性样品用PCR的分析法进行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。结果　在 10 0 6例脐带血样本中 ,检出HbBart’s阳性样品 6 4例 ;经基因分析 ,10 0例被确定了α 地贫基因型 ,韶关市户籍人群中的α 地贫基因携带率为10 2 3% (10 3/ 10 0 6 ) ,共检出 4种α 地贫等位基因 ,其构成比依次为 5 0 4 8% (- - SEA)、4 0 0 0 % (-α3 7)、4 76 % (-α4 2 )、2 86 % (αCSα)。其中缺失型占 95 2 4 % ,非缺失型占 2 86 %。结论　由于α 地贫发生率较高 ,该研究结果为在该地区进行遗传咨询和产前诊断提供了有价值的基础资料。更多还原

【Abstract】 Objective To investigate the gene frequencies and mutation patterns of α-thalassemia in Shaoguan city of Guangdong province.Methods A large sample of umbilical blood specimens were collected randomly from individuals in city and town areas of Shaoguan.Hemoglobin electrophoresis analysis was performed for all the samples.With Hb Bart’s,α-thal indicator was further detected using PCR DNA analysis.In adition,-α 3.7 and -α 4.2 alleles were screened using Gap-PCR in all DNA samples.Results Of the 1006 random samples of umbilical blood screened ,64 were detected positive with Hb Bart’s,100 were found to be carriers of α-thal.The α-thal incidence is as high as 10.23%.In this investigation,four well-known types of α-thal alleles were detected including 50.48% of -- SEA deletion,40.00% of -α 3.7 deletion,4.76% of -α 4.2 deletion and 2.86% of α CS α mutation.Conclusion Our findings α-thal gene frequenceies and mutation spectrum in Shaoguan city are useful for genetic counseling and prenatal diagnosis.更多还原