本文關(guān)鍵詞： 遺傳多態(tài)性 短串聯(lián)重復(fù)(STR) Y染色體 DYS718　出處：《山西醫(yī)科大學(xué)》2008年碩士論文　論文類型：學(xué)位論文

【摘要】： 目的本文對山西漢族群體Y-STR DYS718基因座的等位基因頻率分布進(jìn)行調(diào)查,為群體遺傳學(xué)、法醫(yī)學(xué)個(gè)體識別及親子鑒定提供基礎(chǔ)數(shù)據(jù).并對該基因座的法醫(yī)學(xué)應(yīng)用價(jià)值進(jìn)行可行性探討。 方法(1)樣本采集:隨機(jī)抽取116例山西漢族男性無關(guān)個(gè)體靜脈血500ul,EDTA抗凝,進(jìn)行DYS718基因座等位基因頻率分布調(diào)查;采集同一例健康男性尸體的血液、肌肉、心臟、肝臟、腎臟組織進(jìn)行同一性測驗(yàn);采集20例女性個(gè)體血進(jìn)行男性特異性檢驗(yàn);采集15例兩代家系血進(jìn)行突變觀察;采集5例常見雄性動物血液進(jìn)行種屬特異性觀察。(2)用酚-氯仿法提取DNA,PCR擴(kuò)增,8%非變性聚丙烯酰胺凝膠電泳,硝酸銀染色分型。(3)測序和命名:對其所有等位基因測序,構(gòu)建等位基因分型標(biāo)準(zhǔn)物。按照ISFG原則命名等位基因。(4)數(shù)據(jù)處理:基因座的等位基因頻率采用直接計(jì)算法。在GDB數(shù)據(jù)中查找候選基因座;在重復(fù)序列兩端設(shè)計(jì)引物;用PCR方法擴(kuò)增;電泳分型;對其所有等位基因測序;構(gòu)建等位基因分型標(biāo)準(zhǔn)物;按照ISFG原則命名等位基因。 結(jié)果本文研究顯示:DYS718基因座核心序列為tta,被調(diào)查的山西地區(qū)漢族男性個(gè)體核心序列的重復(fù)次數(shù)為14～17,共4個(gè)等位基因:14、15、16、17�；蝾l率分別為0.1207、0.3621、0.4138、0.1034,基因多樣性為0.6782,個(gè)人識別能力(DP)和非父排除率(PE)均為0.6782。(2)20例女性樣本DNA無擴(kuò)增產(chǎn)物。(3)同一尸體血液,器官組織檢測結(jié)果分型一致。(4)15例兩代家系觀察未見突變。 結(jié)論DYS718基因座在山西漢族男性人群中有較好的多態(tài)性,并具有較好的個(gè)人識別能力和非父排除率,可用于法醫(yī)學(xué)的混合斑分析和父系親屬間的親權(quán)關(guān)系鑒定。
[Abstract]:Objective to investigate the allele frequency distribution of Y-STR DYS718 locus in Shanxi Han population. Forensic individual identification and paternity test provide basic data. The feasibility of forensic application of this locus is also discussed. Methods 1) sampling: the allelic frequency of DYS718 locus was investigated in 116 unrelated individuals of Han nationality in Shanxi province, and the anticoagulant activity of EDTA in venous blood was investigated. The blood, muscle, heart, liver and kidney tissues of the same healthy male cadaver were collected for identity test. Blood samples were collected from 20 female individuals for male specificity test. 15 cases of blood samples from two generations of families were collected for mutation observation. Blood samples from 5 common male animals were collected for species-specific observation. The DNA was extracted by phenol-chloroform method to amplify 8% non-denatured polyacrylamide gel electrophoresis by PCR. Silver nitrate staining typing. 3) sequencing and naming: all its alleles were sequenced. Construction of allelic genotyping standard material. According to ISFG principle named allele. 4) data processing: allele frequency of locus was calculated directly. Candidate loci were searched in GDB data. Primers were designed at both ends of the repeat sequence; PCR method was used to amplify; Electrophoretic typing; All alleles were sequenced. Construction of allelic genotyping standard; Alleles were named according to ISFG principle. Results in the present study, the core sequence of the 1: DYS718 locus is tta.The number of repeats of the core sequence of the male population of Shanxi Han nationality is 1417, with four alleles: 14. 14. The gene frequencies were 0.1207, 0.3621, 0.4138 and 0.1034, respectively. The gene diversity was 0.6782. Personal recognition ability (DPN) and non-paternal exclusion rate (PEE) were 0.6782.02 / 20 female samples without DNA amplification products. 3) the same blood was found in the same cadaveric body. The results of organ and tissue examination were consistent. 15 cases of two generations were observed and no mutation was observed. Conclusion DYS718 locus has a good polymorphism in male population of Shanxi Han nationality and has good personal recognition ability and non-paternal exclusion rate. It can be used in mixed spot analysis of forensic medicine and paternity identification among paternal relatives.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2008
【分類號】：D919

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本文編號：1478549