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

作　　者：孔德佳[1] 黄秋英[1] 王旭东[1] 郭奇伟 周裕林 李庆阁[1] 

机构地区：[1]厦门大学生命科学院分子诊断教育部工程研究中心,福建厦门361005 [2]厦门市妇幼保健院产前诊断实验室

出　　处：《中国优生与遗传杂志》2014年第10期13-15,共3页Chinese Journal of Birth Health & Heredity

基　　金：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)

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 a-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/, αQs/, αwsα/） in Chinese population by multicolor fluorescence melting curve analysis method. The genotype of each case with non-deletional a-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 a-thalassernia mutation carriers were detected among 450 samples, which meant the incidence of non--deletional ot-thalassemia was 3.33% （15/450） , including αCSα/ 1.56% （71450） , αQsα/ 1.11% （5/450） and αWS/α 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 vrevention of thalassemia disease.

关 键 词：地中海贫血 Α珠蛋白基因 熔解曲线 流行病学 

分 类 号：R556.61[医药卫生—血液循环系统疾病]