中国北方汉族群体HpO表型的分子遗传学及其法医学应用研究

发布时间：2018-04-28 10:44

本文选题：结合珠蛋白 + Hp0型　；参考：《中国医科大学》2005年硕士论文

【摘要】：前言结合珠蛋白(Haptoglobin,简称Hp)是一种广泛存在于人类和哺乳动物血清及其他体液中的α_2唾液酸糖蛋白。1955年,Smithies等发现Hp表型的遗传多态性,并将其分为三种主要表型:Hp1、Hp2-1、Hp2,使其成为最早发现具有电泳多态性的血清蛋白质。Hp表型受控于一对等位基因Hp~1和Hp~2,呈共显性遗传。大量群体资料表明Hp表型在大多数人群具有较好的频率分布,由于其具有较高的个人识别机率和非父排除率,从而广泛应用于法医学个人识别和亲子鉴定。在实际应用与研究中,人们发现Hp存在许多遗传变异型,其中以HpO型引人关注。HpO型即无Hp血症或低Hp血症,是由于血清Hp缺如或者浓度极低,用常规电泳方法检测不到Hp的存在。近年来,有关HpO型的报道日渐增多,甚至在某些地区其频率已达到多态性水平,但其分子遗传基础无法用孟德尔遗传定律解释,因此,逐渐引起人们的重视与关注。目前,国内外尚无对HpO型作基因分型的报道,而在实际亲子鉴定案例中有不少HpO型的出现。针对这一问题,本研究通过对中国北方汉族群体Hp表型分布的调查,筛选HpO型个体,并应用分子生物学的方法确定HpO个体的基因型,建立从分子水平判定HpO基因型的方法,为法医学应用和临床医学研究奠定基础。材料与方法本研究应用不连续聚丙烯酰胺凝胶电泳结合联苯胺染色方法检测210例无血缘关系的中国北方汉族个体的Hp表型,筛选HpO型个体。针对这
[Abstract]:Preface Haptoglobin (Hp) is a kind of 伪 2 sialate glycoprotein widely found in human and mammalian serum and other body fluids. The genetic polymorphism of HP phenotype was discovered in 1955 by Smithies et al. They were divided into three main phenotypes: Hp1, Hp2-1 and Hp2, which made them become the first serum-protein. HP phenotypes with electrophoretic polymorphism were controlled by a pair of alleles Hp~1 and Hpm2and were codominant. A large number of population data show that the HP phenotype has a good frequency distribution in most populations. Due to its high probability of personal identification and non-paternity exclusion, HP phenotype is widely used in forensic personal identification and paternity testing. In the practical application and research, it has been found that there are many genetic variants of HP, among which the HpO type attracts attention. HpO type is no HP or hypopremia, which is due to the absence of HP in serum or the extremely low concentration of HP. HP was not detected by conventional electrophoresis. In recent years, there are more and more reports about HpO type, even in some areas, its frequency has reached the level of polymorphism, but its molecular genetic basis can not be explained by Mendelian genetic law, so people pay more and more attention to it. At present, there are no reports on genotyping of HpO type at home and abroad, but there are many cases of HpO type in actual paternity test. In order to solve this problem, this study investigated the distribution of HP phenotype in Han population of northern China, screened HpO individuals, determined the genotypes of HpO individuals by molecular biology, and established a method to determine HpO genotypes at molecular level. To lay a foundation for forensic application and clinical medical research. Materials and methods In this study, discontinuous polyacrylamide gel electrophoresis combined with benzidine staining was used to detect HP phenotypes in 210 unrelated Han individuals from northern China and to screen HpO type individuals. For this.
【学位授予单位】：中国医科大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：D919.1

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