中國北方漢族群體HpO表型的分子遺傳學(xué)及其法醫(yī)學(xué)應(yīng)用研究
發(fā)布時(shí)間:2018-04-28 10:44
本文選題:結(jié)合珠蛋白 + Hp0型; 參考:《中國醫(yī)科大學(xué)》2005年碩士論文
【摘要】:前言 結(jié)合珠蛋白(Haptoglobin,簡稱Hp)是一種廣泛存在于人類和哺乳動(dòng)物血清及其他體液中的α_2唾液酸糖蛋白。1955年,Smithies等發(fā)現(xiàn)Hp表型的遺傳多態(tài)性,并將其分為三種主要表型:Hp1、Hp2-1、Hp2,使其成為最早發(fā)現(xiàn)具有電泳多態(tài)性的血清蛋白質(zhì)。Hp表型受控于一對(duì)等位基因Hp~1和Hp~2,呈共顯性遺傳。 大量群體資料表明Hp表型在大多數(shù)人群具有較好的頻率分布,由于其具有較高的個(gè)人識(shí)別機(jī)率和非父排除率,從而廣泛應(yīng)用于法醫(yī)學(xué)個(gè)人識(shí)別和親子鑒定。在實(shí)際應(yīng)用與研究中,人們發(fā)現(xiàn)Hp存在許多遺傳變異型,其中以HpO型引人關(guān)注。HpO型即無Hp血癥或低Hp血癥,是由于血清Hp缺如或者濃度極低,用常規(guī)電泳方法檢測(cè)不到Hp的存在。近年來,有關(guān)HpO型的報(bào)道日漸增多,甚至在某些地區(qū)其頻率已達(dá)到多態(tài)性水平,但其分子遺傳基礎(chǔ)無法用孟德爾遺傳定律解釋,因此,逐漸引起人們的重視與關(guān)注。 目前,國內(nèi)外尚無對(duì)HpO型作基因分型的報(bào)道,而在實(shí)際親子鑒定案例中有不少HpO型的出現(xiàn)。針對(duì)這一問題,本研究通過對(duì)中國北方漢族群體Hp表型分布的調(diào)查,篩選HpO型個(gè)體,并應(yīng)用分子生物學(xué)的方法確定HpO個(gè)體的基因型,建立從分子水平判定HpO基因型的方法,為法醫(yī)學(xué)應(yīng)用和臨床醫(yī)學(xué)研究奠定基礎(chǔ)。 材料與方法 本研究應(yīng)用不連續(xù)聚丙烯酰胺凝膠電泳結(jié)合聯(lián)苯胺染色方法檢測(cè)210例無血緣關(guān)系的中國北方漢族個(gè)體的Hp表型,篩選HpO型個(gè)體。針對(duì)這
[Abstract]:Preface Haptoglobin (Hp) is a kind of 偽 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.
【學(xué)位授予單位】:中國醫(yī)科大學(xué)
【學(xué)位級(jí)別】:碩士
【學(xué)位授予年份】:2005
【分類號(hào)】:D919.1
【參考文獻(xiàn)】
相關(guān)期刊論文 前3條
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