本文選題：Y-STR + 山西漢族人群　； 參考：《山西醫(yī)科大學(xué)》2010年碩士論文

【摘要】： 目的通過調(diào)查山西漢族人群Y-STR基因座DYS576和DYS641的遺傳多態(tài)性,研究山西漢族男性人群中DYS576和DYS641基因多態(tài)性及群體分布情況,為法醫(yī)學(xué)的個人識別、親子鑒定提供參考數(shù)據(jù),并探討其法醫(yī)學(xué)應(yīng)用。 方法隨機抽取山西漢族人群中205例無關(guān)健康男性個體血樣1ml,EDTA抗凝；采集同一例男性尸體的血液及幾種組織,進行同一性檢驗；隨機抽取山西漢族人群中30例無關(guān)健康女性個體血樣1ml,EDTA抗凝,進行男性特異性檢驗；采集30例兩代已確認(rèn)親子關(guān)系的家系血樣,進行突變觀察；收集常見的幾種動物的個體組織或血液樣本,進行種屬檢驗。將上述材料提取基因組DNA,用基因座DYS576和DYS641的引物將提取的基因組DNA經(jīng)PCR擴增,擴增產(chǎn)物進行聚丙烯酰胺凝膠電泳,篩出等位基因并測序,制備等位基因分型標(biāo)準(zhǔn)物L(fēng)adder;以等位基因比對Ladder進行分型,然后按照國際法醫(yī)遺傳學(xué)會推薦的原則命名各等位基因,最后進行數(shù)據(jù)統(tǒng)計分析,得出這兩個基因座在山西漢族人群的多態(tài)性分布情況。 結(jié)果205例山西漢族男性DYS576基因座檢出7種等位基因,分別為DYS576*15,DYS576*16,DYS576*17,DYS576*18,DYS576*19,DYS576*20和DYS576*21,基因頻率分別為0.0488,0.1024,0.2780,0.2439,0.2146,0.0976和0.0146,其個人識別能力(DP)和非父排出率(PE)均為0.7984；DYS641基因座檢出6種等位基因,分別為DYS641*6,DYS641*7,DYS641*8,DYS641*9,DYS641*10,DYS641*11,基因頻率分別為0.0927,0.4780,0.0634,0.1024,0.2098和0.0537,其個人識別能力(DP)和非父排出率(PE)均為0.7050；由這2個基因座構(gòu)成的單倍型在205名山西漢族男性個體中共發(fā)現(xiàn)28種,基因變異度為0.9423,其個人識別能力(DP)和非父排出率(PE)均為0.9423；同一男性尸體的血液及各種組織檢測結(jié)果與2個基因座分型分別一致；30例女性樣本DNA未見擴增產(chǎn)物；30例兩代家系觀察未見突變；動物檢測未見擴增產(chǎn)物。 結(jié)論DYS576和DYS641基因座具有較高遺傳多態(tài)性,在法醫(yī)學(xué)及人類遺傳學(xué)方面具有較高應(yīng)用價值。
[Abstract]:Objective to investigate the genetic polymorphisms of DYS576 and DYS641 in Y-STR loci in Shanxi Han population, and to study the polymorphism and distribution of DYS576 and DYS641 genes in male population of Shanxi Han nationality, so as to provide reference data for forensic personal identification and paternity test. And discuss its forensic application. Methods A total of 205 unrelated healthy male blood samples were randomly collected from Shanxi Han population, and 1ml EDTA anticoagulant, blood samples and tissues of the same male cadaver were collected for identity test. 30 unrelated healthy female blood samples from Shanxi Han population were randomly selected for anticoagulant test for male specificity test, and 30 blood samples from two generations of confirmed parent-child relationship were collected for mutation observation. Collect individual tissues or blood samples of several common animals for species testing. The genomic DNA was amplified by PCR with primers of locus DYS576 and DYS641. The amplified products were analyzed by polyacrylamide gel electrophoresis, alleles were screened and sequenced. The allelic genotyping standard material Ladder was prepared, the allele ratio was used to type Ladder, and the alleles were named according to the principles recommended by the International Forensic Genetics Association. Finally, the data were statistically analyzed. The polymorphism distribution of these two loci in Shanxi Han population was obtained. Results Seven alleles were detected in 205 Han male DYS576 loci in Shanxi Province. The alleles were DYS576A15DYS57616, DYS576H17DYS576F7 / 18DYS576F20 and DYS57621 respectively. The frequencies of the alleles were 0.04880.10240.2780 (0.2439), 0.21460.0976 and 0.0146, respectively. The individual recognition ability of DYS57616 and the non-paternal rate of PE) were 0.7984DYS641 (P) and 0.7984DYS641 (P), respectively. The alleles of DYS57641 and DYS57641 were detected. DYS641DYS641DYS641( 8DYS641n9DYS641C 10DYS64111), the gene frequencies were 0.09270.4780, 0.06340.10240.2098 and 0.0537, respectively. Their personal recognition ability and non-paternal excretion rate (PE) were 0.7050, and the haplotypes constructed by these two loci were 28 species were found in 205 Han male individuals in Shanxi Province, respectively, and the gene frequencies were 0.0927, 0.4780, 0.06340, 0.10240.2098 and 0.0537, respectively, and the non-paternal excretion rate (PEP) was 0.7050, and the two loci haplotypes were found in 205 Han males in Shanxi province. The variation of gene was 0.9423, its personal recognition ability and non-paternal excretion rate were 0.9423.The results of blood and various tissue tests of the same male cadaver were consistent with those of two locus typing in 30 female samples and 30 cases without DNA amplification products. No mutation was observed in two generations of families. No amplification products were found in animal tests. Conclusion DYS576 and DYS641 loci have high genetic polymorphisms and are valuable in forensic medicine and human genetics.
【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】：2010
【分類號】：D919

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