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	厦门地区非缺失型α-地中海贫流行病学调查; Epidemiological survey of non-deletional α-thalassemia in population of Xiamen area
	孔德佳 ; 黄秋英 ; 王旭东 ; 郭奇伟 ; 周裕林 ; 李庆阁
	2014-10-25
关键词	地中海贫血 α珠蛋白基因 熔解曲线 流行病学 Thalassemia α-globin gene Melting curve analysis Epidemiology
英文摘要	目的调查厦门地区非缺失型α-地中海贫血的发生率,探讨在厦门地区开展非缺失型α-地中海贫血检测的必要性和意义。方法收集2013年1至6月厦门市妇幼保健院的α-地中海贫血高危人群的外周血及脐带血标本450份,经核酸基因组提取后,利用的荧光PCr熔解曲线法对这450份样本进行三种常见非缺失型α-地中海贫血基因(αCSα/、αQSα/、αWSα/)检测,再综合常见三种缺失型α-地中海贫血基因(--SEA/、-α3.7/、-α4.2/)检测结果,判定标本的α-地中海贫血基因型,统计非缺失型α-地中海贫血发生率。结果 450例标本共检出15例非缺失型α-地中海贫血携带者,非缺失型α-地中海贫血基因发生率为3.33%(15/450),其中αCSα/、αQSα/、αWSα/的发生率依次为1.56%(7/450)、1.11%(5/450)、0.67%(3/450)。结论非缺失型α-地中海贫血在厦门地区具有较高的发生率,厦门地区应将常见非缺失型α-地中海贫血基因(αCSα/、αQSα/、αWSα/)检测作为地中海贫血基因诊断和产前诊断的对象,从而提高地中海贫血的检出率。; Objective:To investigate the incidence of non-deletional α-thalassemia in Xiamen area,and explore the importance and significance of non-deletional α-thalassemia detection.Methods:From January 2013 to June 2013,peripheral blood or and umbilical cord blood of 450 cases with high risk of α-thalassemia were collected from the Maternal and Child Health Care Hospital of Xiamen.After genomic DNA extraction,all samples were detected for the three common non-deletional α-thalassemia mutations(αCSα/,αQSα/,αWSα/)in Chinese population by multicolor fluorescence melting curve analysis method.The genotype of each case with non-deletional α-thalassemia mutation was determined according to the three common deletional α-thalassemia mutations(--SEA/,-α3.7/,-α4.2/),and then the incidence of non-deletional α-thalassemia mutation was calculated.Results:Totally 15 non-deletional α-thalassemia mutation carriers were detected among 450 samples,which meant the incidence of non-deletional α-thalassemia was 3.33%(15/450),including αCSα/ 1.56%(7/450),αQSα/ 1.11%(5/450)and αWSα/ 0.67%(3/450).Conclusion:Xiamen is the area with high risk of non-deletional α-thalassemia,and it should be important and useful to detect non-deletional α-thalassemia mutations in the area for prevention of thalassemia disease.; 国家自然科学基金科学青年基金项目(编号:81101323); 厦门大学大学生创新创业训练计划项目(编号:DC2013149)
语种	zh_CN
内容类型	期刊论文
源URL	[http://dspace.xmu.edu.cn/handle/2288/119268]
专题	生命科学－已发表论文
推荐引用方式 GB/T 7714	孔德佳,黄秋英,王旭东,等. 厦门地区非缺失型α-地中海贫流行病学调查, Epidemiological survey of non-deletional α-thalassemia in population of Xiamen area[J],2014.
APA	孔德佳,黄秋英,王旭东,郭奇伟,周裕林,&李庆阁.(2014).厦门地区非缺失型α-地中海贫流行病学调查..
MLA	孔德佳,et al."厦门地区非缺失型α-地中海贫流行病学调查".(2014).

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