發(fā)布時(shí)間：2018-11-16 06:53

【摘要】：目的 調(diào)查Y染色體上的短串聯(lián)重復(fù)序列DYS460(A7.1)基因座在山西漢族人群基因頻率分布、多態(tài)性及群體差異情況，以及建立DYS460基因座的分型方法。為其法醫(yī)學(xué)應(yīng)用、DNA數(shù)據(jù)庫建立、群體遺傳學(xué)提供基礎(chǔ)數(shù)據(jù)。 方法 (1)樣本采集：隨機(jī)抽取100例山西漢族男性無關(guān)個(gè)體靜脈血500ul，采集15例兩代家系血進(jìn)行突變觀察；20例女性個(gè)體血進(jìn)行男性特異性檢驗(yàn)；采集同一例健康男性尸體的心臟、肝臟、肌肉組織等進(jìn)行同一性測(cè)定。(2)方法：EDTA抗凝，用TKM1液反復(fù)洗滌至無色，蛋白酶K(20mg／ml)消化至液體清亮為止，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)數(shù)據(jù)處理：基因座的等位基因頻率采用直接計(jì)算法，與其他人群比較采用x~2檢驗(yàn)計(jì)算。 結(jié)果 (1)100例山西漢族人群DYS460基因座共檢出4種不同的等位基因，分別為DYS460*9(0.20)、DYS460*10(0.35)、DYS460.11(0.32)、DYS460*12(0.12)，基因多樣性為0.7214，與不同地區(qū)及不同民族的等位基因頻率分布進(jìn)行了比較均有明顯的差異。(2)同一尸體血液，器官組織檢測(cè)結(jié)果分型一致。(3)20例女性樣本DNA無擴(kuò)增產(chǎn)物。(4)15例兩代家系觀察未見突變。 結(jié)論 DYS460基因座在山西漢族男性人群中有較好的多態(tài)性，其等位基因分布在不同地區(qū)、不同人群有差異性，對(duì)法醫(yī)學(xué)應(yīng)用、人類遺傳學(xué)等研究具有重要價(jià)值。
[Abstract]:Objective to investigate the frequency distribution, polymorphism and population difference of DYS460 (A7.1) locus on Y chromosome in Shanxi Han population, and to establish the method of DYS460 locus typing. For its forensic application, the establishment of DNA database, population genetics to provide basic data. Methods (1) sampling: the venous blood was collected from 100 unrelated individuals of Han nationality in Shanxi province at random, 15 blood samples from two generations were collected for mutation observation, and 20 blood samples from female Han nationality were tested for male specificity. The identity of heart, liver and muscle tissues of the same healthy male cadaver was determined. (2) methods: EDTA anticoagulant, washed repeatedly with TKM1 solution to colorless, proteinase K (20mg/ml) digested to clear liquid. DNA,PCR was extracted by phenol-chloroform method, 8% non-denatured polyacrylamide gel electrophoresis, silver nitrate staining and typing. (3) data processing: allelic frequency of locus was calculated directly. Compared with other population, XG 2 test was used. Results (1) four different alleles were detected in the DYS460 loci of 100 Han people in Shanxi Province. They were DYS460*9 (0.20), DYS460*10 (0.35), DYS460.11 (0.32), DYS460*12 (0.12). The genetic diversity was 0.7214, which was significantly different from the allele frequency distribution in different regions and nationalities. (2) the same cadaveric blood. The results of organ and tissue examination were consistent. (3) there was no amplified product of DNA in 20 female samples. (4) there was no mutation observed in 15 cases of two generations of pedigree. Conclusion DYS460 locus has a good polymorphism in the male population of Shanxi Han nationality. The alleles of DYS460 locus are distributed in different regions and different populations, which is of great value for forensic application, human genetics and so on.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2006
【分類號(hào)】：D919

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