结合珠蛋白(Hp)表型检测的临床意义  

A Study of Haptoglobin(Hp) Phenotype and Sense of Alternative

作　　者：冯春梅[1] 黄洪武 孙志刚[1] 

机构地区：[1]牡丹江医学院生物技术实验室,黑龙江牡丹江157011 [2]江苏省昆山市公安局刑侦大队

出　　处：《沈阳医学院学报》2012年第4期202-204,210,共4页Journal of Shenyang Medical College

摘　　要：目的:调查中国北方汉族群体Hp表型分布情况,从分子水平建立判定Hp0基因型的方法及临床意义。方法:采用Chelex-100法提取样品DNA,通过浓缩与分离凝胶电泳进行表型的检测。利用Hpdel、Hp2、Hpexon3三个引物,对210名无血缘关系的中国北方汉族个体血液样品进行PCR复合扩增,检测表型和基因型并计算群体遗传学参数,通过检测扩增产物的有无判定Hp基因型。结果:300例中国北方汉族群体血清样品的4种Hp表型等位基因频率分别为:Hp1=0.2278,Hp2=0.6519,Hp0=0.1203,Hpdel=0.0262,P>0.05,符合Hardy-Weinberg平衡。结论:提示Hp0具有不同的分子遗传学基础,同时也从基因水平准确鉴别了无结合珠蛋白血症和低结合珠蛋白血症,为临床医学的研究提供一种新的研究方法。Objective： To investigate the Hp phenotype in northern China Han population distribution, and to establish the meth- od of molecular level to determine Hp0 genotype and sense of alternative. Method： DNA samples were extracted by Chelex-100, and the phenotype was detected by concentration and separation of the gel electrophoresis. Three primers of Hpdel , Hp2 , Hpexon3 were used of multiplex PCR to extract samples and detect 3 Hp0 type of standard phenotypic detection and genotyping, and calculate the population genetics parameters. The presence or absence of amplified products was detected to determine Hp genotype. Results： There were four phenotypes of Hp and the allele frequency was Hpj 0. 2278, Hp2 0. 6519 , Hp0 0. 1203 and Hpael 0. 0262 , P 〉 0. 05. There were no significant deferences between them and line with Hardy-Weinberg equilibrium. Conclusion： The results are not only prompted Hp0 have different molecular genetic basis of gene level but also the accurate identification of haptoglobin acidosis and low haptoglobin serum protein. It is a new research methods for clinical research.

关 键 词：结合珠蛋白 Hp0型 Hpdel基因 复合扩增 

分 类 号：R394-33[医药卫生—医学遗传学]