节点文献
β地中海贫血筛查中MCV可靠性的分析
Analysis of MCV reliability in β-thalassemia screening
【摘要】 目的通过区域大人群的筛查,确定MCV作为β地中海贫血筛查指标的可靠性。方法以婚育学校新婚班育龄夫妇为研究对象,用全自动血细胞分析仪测定平均红细胞体积(MCV)进行地贫筛查。MCV≤80fl的进行β地贫基因诊断,采用PCR结合反向点杂交(RDB)技术,进行β地贫17个常见β突变点基因检测。结果根据MCV的检测值,对进行β地贫基因诊断的5640人进行分组,MCV≤80fl组,β地贫携带率为26.80%;MCV>80fl组,β地贫携带率为0.21%。结论 PCR结合反向斑点杂交法(RDB)检测β地贫基因诊断存在局限性。MCV可作为β地贫筛查的可靠指标。
【Abstract】 Objective:To determine MCV as theβ-thalassemia screen the reliability of indicators through the screening of large populations. Methods:Mean corpuscular volume(MCV)is used as a thalassaemia screening indicators by automatic blood cell analyzer,and to study newly married couples of reproductive age marriage schools. Theβ-thalassemia gene in patients with the MCV 80 fl or less were determined with PCR and reverse dot-blot hybridization method(PCR-RDB)to detect 17 common gene mutations. Results:According to the MCV values,5640 people for β-thalassemia gene diagnosis group,MCV≤80fl, β-thalassemia carrying rate of 26.80%;MCV>80fl group,β-thalassemia carrying rate of 0.21%. Conclusion:With PCR and reverse dot-blot hybridization method(RDB)detection of β-thalassemia gene diagnosis has limitations. The MCV value can be used as a reliable indicator of β-thalassemia screening.
- 【文献出处】 中国优生与遗传杂志 ,Chinese Journal of Birth Health & Heredity , 编辑部邮箱 ,2014年05期
- 【分类号】R556.71
- 【被引频次】10
- 【下载频次】68