【摘要】： 目的通過調(diào)查山西漢族120例男性無關(guān)個體兩個Y-STR基因座DYS719和DYS439等位基因頻率的分布,為群體遺傳學、法醫(yī)學個人識別及親子鑒定提供基礎(chǔ)數(shù)據(jù),并對這兩個Y染色體基因座在法醫(yī)學上的應(yīng)用價值進行可行性探討。 方法(1)樣本采集:隨機抽取120例山西漢族男性無關(guān)個體靜脈血500μl,EDTA抗凝,進行DYS719和DYS439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心臟血、肝、脾、肺、腎、肌肉、皮膚組織進行同一性檢驗;采集20例女性個體血進行男性特異性檢驗;采集15例兩代家系血進行突變觀察。(2)酚-氯仿有機溶劑法提取基因組DNA,從GDB中選取兩個Y-STR基因座DYS719及DYS439,并摸索適合的擴增條件,進行PCR擴增,瓊脂糖電泳檢測擴增產(chǎn)物,8%非變性聚丙烯酰胺凝膠電泳,硝酸銀染色顯帶。(3)測序和命名:將所有的等位基因進行測序,構(gòu)建等位基因分型標準物,按照ISFG原則命名各等位基因。(4)數(shù)據(jù)處理:基因座的等位基因頻率采用直接計算法。 結(jié)果DYS719基因座的核心序列為aat,重復(fù)次數(shù)為11-15,在山西漢族120例男性個體中觀察到5個等位基因11、12、13、14、15,基因頻率分別為0.0833、0.1333、0.2167、0.4167、0.1500,基因多樣性為0.7322,個人識別率(DP)和非父排除率(PE)均為0.7322;DYS439基因座的重復(fù)序列為ctat,120例山西漢族男性人群中共觀察到4個等位基因10、11、12、13,基因頻率分別為0.1250、0.3833、0.3250、0.1667,基因多樣性為0.7040,個人識別率(DP)和非父排除率(PE)均為0.7040。20例女性DNA未發(fā)現(xiàn)擴增產(chǎn)物,說明這兩個基因座特異性均較好。檢測15對父子DYS719和DYS439基因座的等位基因未發(fā)現(xiàn)變異。對同一男性尸體的心臟血、肝、脾、肺、腎、肌肉、皮膚組織等DNA進行檢測結(jié)果為同一等位基因型,提示這兩個Y-STR基因座均有較好的個人同一性。 結(jié)論DYS719和DYS439基因座均具有較高的遺傳多態(tài)性,并具有較好的個人識別能力和非父排除率,在法醫(yī)學及人類學方面具有應(yīng)用價值。
[Abstract]:Objective to investigate the distribution of DYS719 and DYS439 alleles in two Y-STR loci in 120 male unrelated individuals in Shanxi Han nationality, and to provide basic data for population genetics, forensic personal identification and paternity testing. The feasibility of these two Y chromosome loci in forensic medicine was discussed. Methods (1) sampling: 120 unrelated individuals of Shanxi Han nationality were randomly selected to investigate the allelic frequency distribution of DYS719 and DYS439 loci, and the heart, liver, spleen, lung, kidney and muscle of the same healthy male cadaver. The blood samples of 20 women were collected for male specificity test. Genomic DNAs were extracted by phenol-chloroform organic solvent method. Two Y-STR loci DYS719 and DYS439were selected from GDB, and the suitable conditions were explored for PCR amplification. Agarose electrophoresis was used to detect 8% non-denatured polyacrylamide gel electrophoresis and silver nitrate staining banding. (3) sequencing and naming: all alleles were sequenced to construct allelic genotyping standard. (4) data processing: allele frequencies of loci were calculated directly. Results the core sequence of DYS719 locus was aat, the number of repeats was 11-15. Five alleles (1112 alleles) were observed in 120 male individuals of Shanxi Han nationality. The gene frequencies were 0.0833 (0.1333), 0.21677 (0.2167) and 0.1500 (0.73 22), respectively. The individual recognition rate (DP) and non-paternal exclusion rate (PE) were both observed. The repeat sequence of 0.7322 DYS439 locus was found in 120 cases of Shanxi Han nationality male population, and 4 alleles (10 alleles) were observed. The gene frequencies were 0.1250, 0.3833, 0.3250 and 0.1667, respectively. The gene diversity was 0.70400.The individual recognition rate (DP) and non-paternal exclusion rate (PE) were 0.7040.20 female DNA products were not found. The results showed that the specificity of the two loci was better. No variation was found in 15 pairs of paternal DYS719 and DYS439 loci. The DNA of heart, liver, spleen, lung, kidney, muscle and skin tissues of the same male cadaver were detected as the same allele, indicating that the two Y-STR loci have good individual identity. Conclusion both DYS719 and DYS439 loci have high genetic polymorphisms, and have good personal recognition ability and non-paternal exclusion rate, which are valuable in forensic medicine and anthropology.
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2009
【分類號】：D919

【引證文獻】

相關(guān)碩士學位論文 前1條

1 段洪瑞;Y染色體6個STR基因座在中國朝鮮族男性和漢族男性人群中遺傳多態(tài)性[D];延邊大學;2012年

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