医学分子生物学杂志2016，Vol.13Issue(6)：311-316,6.DOI:10.3870/j.issn.1672-8009.2016.00.000
闽南地区罕见α地中海贫血基因型分析
Genotype Analysis of Rare Alpha-Thalassemia in Southern Fujian Province
摘要
Abstract
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.关键词
α地中海贫血/基因诊断/基因型Key words
rare α-thalassemia/genome diagnosis/genotype分类
医药卫生引用本文复制引用
刘朔婕,孙鸣,黄宇,洪国粦,沈关心,胡斌..闽南地区罕见α地中海贫血基因型分析[J].医学分子生物学杂志,2016,13(6):311-316,6.基金项目
国家自然科学基金（No．81301923），福建省自然科学基金 （）
