摘要
目的报告11 446对新婚夫妇α-地中海贫血(α-地贫)检测结果,了解其基因携带率及分布特征。方法组织受检夫妇抽取静脉血,以平均红细胞体积(MCV)<79fl为地贫表型阳性指标。对其中2891例表型阳性和1820例表型阴性样品进行α-地贫基因分析。结果 22 892例筛查对象中检出表型阳性5265例,阳性检出率23%。在表型阳性组中有2891例做了α基因分析,检出3种缺失型α-地贫基因1379例。在表型阴性组中有1820例做了α基因分析,检出3种缺失型α-地贫基因49例,缺失型α-地贫基因携带率为13.05%。常见3种缺失型α-地贫等位基因频率依次是(--SEA)4.24%、(-α3.7)1.72%、(-α4.2)0.87%。临床常见α-地贫的发生率依次为静止型α-地贫4.26%、标准型α-地贫8.57%、HbH病0.22%。结论本地区为地贫高发区,应将基因分析列入筛查项目,为制定地贫干预方案提供科学依据。
Objective: Report of 11,446 pairs of newlyweds α - thalassemia (α - thalassemia) test results, to understand the genes carry rate and distribution. Methods: Organizations subjects couple venous blood, the mean corpuscular volume (MCV) 〈 79fl thalassemia phenotype as positive indicators. Phenotype of which 2891 cases and 1820 cases of positive samples were negative phenotype of α - thalassemia gene analysis. Results : 22 892 cases of detected objects phenotypic screening positive 5265 cases, positive detection rate of 23%. In the phenotype α- positive group gene analysis, had 2891 cases made, 3 deletion detected α - thalassemia gene in 1379 cases. In the phenotype α -negative group had 1820 cases made a genetic analysis, 3 deletion detected α -thalassemia gene in 49 cases, deletion α - thalassemia carrier rate 13.05%. 3 common deletion α - thalassemia allele frequency followed ( - -^ SEA ) 4. 24%, ( - α^3.7 ) 1. 72%, ( - α^4.2 ) 0. 87%. Common clinical the incidence of α - thalassemia were stationary α- thalassemia 4. 26%, standard α - thalassemia 8.57%, HbH disease 0. 22%. Conclusion : High incidence of thalassemia in this region, genetic analysis should be included in screening programs for the development of intervention programs to provide the scientific basis for the poor.
出处
《中国优生与遗传杂志》
2011年第11期115-116,13,共3页
Chinese Journal of Birth Health & Heredity
基金
国家科技部支撑计划课题子项目基金(2006BAI05A02)