云南4种罕见异常血红蛋白突变型分析  

Detection of four rare hemoglobin variants in Yunnan Province

作　　者：何建萍[1] 郭薇霞 唐健 罗胜军 吕梦欣 党峰博[1] 林克勤[2] 杨昭庆[2] HE Jianping;GUO Weixia;TANG Jian;LUO Shengjun;LYU Mengxin;DANG Fengbo;LIN Keqin;YANG Zhaoqing(Department of Medical Genetic,Kunming City Maternal and Child Health Hospital,Kunming,Yunnan 650031,China;Department of Medical Genetic,Institute of Medical Biology,ChineseAcademy of Medical Sciences & Peking Union Medical College,Kunming,Yunnan 650118,China)

机构地区：[1]昆明市妇幼保健院遗传室,云南昆明650031 [2]中国医学科学院/北京协和医学院医学生物学研究所遗传室,云南昆明650118

出　　处：《国际检验医学杂志》2019年第8期932-934,938,共4页International Journal of Laboratory Medicine

基　　金：云南省科技计划项目(2016FA048);国家重点研发计划(2016YFC1201704)

摘　　要：目的明确7例血红蛋白电泳检出的异常条带产生的基因分子基础,探讨基因型与血液学表型的关系。方法用血常规指标和血红蛋白电泳进行表型分析,采用PCR-反向点杂交法检测α地贫和β地贫,应用PCR产物测序技术对α、β基因全长进行测序,检测基因突变类型。结果 7例样本中检出4种异常血红蛋白突变型:1例中国首次发现的Hb San Bruno(HBB:c.120G>C)、2例Hb New York(HBB:c.341T>A)、2例Hb J-Bangkok(HBB:c.170G>A)、2例Hb G-Coushatta(HBB:c.68A>C),血常规参数均无明显异常。结论云南存在多种异常血红蛋白突变型,多数单纯异常血红蛋白罕见突变都不产生临床表型,但是云南作为地中海贫血的高发地区,异常血红蛋白病合并地中海贫血的临床意义和危害性有待于进一步研究。Objective To determine the molecular basis of the 7 abnormal hemoglobin(Hb)cases,and to explore the relationship between genotype and hematological phenotype.Methods Complete blood counts and quantification of Hb levels performed by capillary electrophoresis were used to hematological analysis.The PCR-reverse dot blot was used to detectαandβthalassemia and the molecular characterization was performed using sanger squencing.Results 4 different Hb variants were detected:one case of Hb San Bruno(HBB:c.120G>C),2 cases of Hb New York(HBB:c.341T>A),2 cases of Hb j-bangkok(HBB:c.170G>A),and 2 cases of Hb G-Coushatta(HBB:c.68A>C).All the cases are hematological normalities.Conclusion Most of the rare Hb mutations clinical are asymptomatic,but the impact of its combination with thalassemia remains to be further studied.

关 键 词：异常血红蛋白 血红蛋白电泳 基因型 血液学表型 

分 类 号：Q343.13[生物学—遗传学]