异常血红蛋白家系的分子诊断  

Molecular diagnosis to families of abnormal hemoglobin

作　　者：林敏[1,2] 杨立业[1] 吴教仁[1] 林春萍[1] 黄樾[1] 林芬[1] 郑磊[2] 王前[2] 

机构地区：[1]南方医科大学附属潮州市中心医院中心实验室,广东潮州521000 [2]南方医科大学南方医院检验科,广东广州510515

出　　处：《分子诊断与治疗杂志》2011年第2期83-86,共4页Journal of Molecular Diagnostics and Therapy

基　　金：广东省医学科研基金(A2009781)

摘　　要：目的对2个罕见的异常血红蛋白家系进行分子诊断。方法采集家系成员的外周血标本,进行血红蛋白的醋酸纤维薄膜电泳(pH8.5)与红细胞参数的分析。常规提取基因组DNA,采用gap-PCR和反向斑点杂交(RDB)鉴定地中海贫血基因。以聚合酶链反应联合限制片段长度多态性分析(PCR-RFLP)和DNA测序方法进行珠蛋白基因突变的鉴定。结果两个家系分别为HbQ-Thailand家系和HbKoln家系。结论 PCR-RFLP法能快速鉴定此两种异常血红蛋白,其中HbKoln家系在中国大陆地区为首次发现。Objective To diagnose two families of abnormal hemoglobin by molecular methods. Methods Peripheral blood of the family members were analyzed by hemoglobin cellulose acetate membrane electrophoresis （PH 8.5） and CELL-DYN1700 blood analyzer. The DNA was extracted by traditional methods, then thalassemia genetypes were identified by gap-PCR and reverse dot blot （RDB）. The mutation of globin was identified by DNA sequencing and polymerase chain reaction combined with restriction fragment length polymorphism （PCR-RFLP）. Results Two families of abnormal hemoglobin were Hb Q-Thailand family and Hb Koln family. Conclusion Hb Q-Thailand and Hb Koln could be quickly identified by PCR-RFLP. The lib Koln was firstly reported in China mainland.

关 键 词：异常血红蛋白 HB Q-Thailand HB Koln 

分 类 号：R556[医药卫生—血液循环系统疾病]