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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。
Objective To investigate the prevalence of α-thalassemia (α-thalassemia), the type and distribution of α-thalassemia in the urban population of Shaoguan City, Guangdong Province. Methods A large random sample of cord blood from the household population of Shaoguan City was collected. HbBart’s was detected by hemoglobin electrophoresis as a positive reference for the diagnosis of α-thalassemia. All HbBart’s positive samples were genotyped for alpha thalassemia using PCR analysis and molecular screening of two common resting alpha thalassemia genes (-α3 7 and -α4 2) was performed in all samples tested. Results A total of 64 cases of HbBart’s positive samples were detected in 106 samples of cord blood samples. According to the genetic analysis, 10 cases of α-thalassemia were identified, and the carrier rate of α-thalassemia gene was 10 Four alleles of α-thalassemia were detected in 23% (10 3/106) of the population, with the proportions of 5 0 48% (-SEA), 4 0 0 0% (-α 3 7) , 76% (-α4 2), and 2 86% (αCSα). Among them, 952 4% were missing and 86% were non-deletion. Conclusions Due to the high prevalence of alpha thalassemia, the results of this study provide valuable basic information for genetic counseling and prenatal diagnosis in the area.