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闽南地区罕见α地中海贫血基因型分析 被引量:10

Genotype Analysis of Rare Alpha-Thalassemia in Southern Fujian Province
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摘要 目的:了解闽南地区罕见α地中海贫血基因突变类型,减少漏诊、误诊。方法对1879例血液学筛查为小细胞低色素的疑似地贫患者DNA样本,采用多聚酶链反应( PCR)、反向斑点杂交( RDB)和测序技术进行基因分析。结果检出α地贫802例(42.68%),罕见地贫6例(0.32%),包括2例(0.11%)香港型(HKαα),2例(0.11%)泰国缺失型,1例(0.05%)-α-27.6缺失型和1例(0.05%)融合基因。结论初步阐明闽南地区独特的罕见α地贫基因型,为减少临床地贫的漏诊、误诊提供指导。 Objective To investigate the genotypes of rare α-thalassemia in southern Fujian province and prevent missed diagnosis and misdiagnosis of this condition. Methods The genotypes were analyzed from 1879 DNA samples extracted from patients whose blood test results showed mi-crocytic hypochromic anemia by PCR, RDB and sequencing methods. Results A total of 802 cases of α-thalassemia (42. 68%) were detected. There were 6 cases of rare α-thalassemia (0. 32 %), including 2 cases of HKαα, 2 cases of–^THAI (0. 11 %) , 1 case of-α-27. 6 (0. 05 %) and 1 case of fusion gene (0. 05 %) . Conclusion This study preliminarily illuminated the unique genotypes of rare α-thalassemia in Southern Fujian province, which provides guidance for preventing missed diagnosis and misdiagnosis of thalassemia.
作者 刘朔婕 孙鸣 黄宇 洪国粦 沈关心 胡斌 LIU Shuojie SUN Ming HUANG Yu HONG Guolin SHEN Guanxin HU Bin(Department of Clinical Laboratory, the First Affiliated Hospital of Xiamen University & the Cancer Hospital of Xiamen, Fujian, 361003, China Department of Reproductive Medicine, the First Affiliated Hospital of Xiamen University & the Cancer Hospital of Xiamen, Fujian, 361003, China Department of Immunology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China)
出处 《医学分子生物学杂志》 CAS 2016年第6期311-316,共6页 Journal of Medical Molecular Biology
基金 国家自然科学基金(No.81301923),福建省自然科学基金(No.2011D012,2015J01561,2016J01633)
关键词 Α地中海贫血 基因诊断 基因型 rare α-thalassemia genome diagnosis genotype
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