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β地中海贫血筛查中MCV可靠性的分析

Analysis of MCV reliability in β-thalassemia screening

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【作者】 李铭臻潘干华周冰燚徐珊珊郑立新

【Author】 LI Ming-zhen;PAN Gan-hua;ZHOU Bing-yi;XU Shan-shan;ZHENG Li-xin;Family Planning Special Hospital of Guangdong;Nanhai District Family Planning Service Center of Foshan;

【机构】 广东省计划生育专科医院佛山市南海区计划生育服务中心

【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.

【关键词】 β地中海贫血筛查可靠性
【Key words】 β-thalassemiaScreenReliability
【基金】 广东省人口和计划生育委员会2007年重点项目(重大出生缺陷和遗传病的防治研究)编号:2007002
  • 【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
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