【摘要】： 目的調(diào)查山西漢族人群中DXS7423、DXS6799基因座的等位基因頻率分布、單倍型頻率分布及相關(guān)遺傳學(xué)參數(shù)等,為人類X染色體STR基因座群體遺傳學(xué)數(shù)據(jù)庫的建立提供基礎(chǔ)數(shù)據(jù),并對其法醫(yī)學(xué)應(yīng)用的可行性進(jìn)行探討。 方法(1)樣本采集:隨機(jī)抽取250名山西漢族無關(guān)個體(男性154,女性96)靜脈血進(jìn)行兩個基因座的多態(tài)性分析;采集30例二聯(lián)體家系血進(jìn)行突變觀察;采集同一女性尸體的血液、肌肉、心臟、肝臟、腎臟、皮膚組織進(jìn)行同一性觀察。(2)方法:基因組DNA用酚-氯仿有機(jī)溶劑法提取,經(jīng)PCR擴(kuò)增后,用8%非變性聚丙烯酰胺凝膠電泳,硝酸銀染色,將各等位基因電泳譜帶與等位基因Ladder進(jìn)行比對分;命名根據(jù)國際法醫(yī)血液學(xué)會(ISFH)DNA委員會推薦的命名原則進(jìn)行。(3)數(shù)據(jù)處理:用直接計算法計算等位基因頻率、基因型頻率和單倍型頻率;用χ2檢驗進(jìn)行男女群體等位基因頻率差異比較、女性樣本Hardy-Weinberg平衡吻合度檢驗和不同群體等位基因頻率差異比較,并計算各種相關(guān)遺傳學(xué)參數(shù)。 結(jié)果(1)山西漢族250名無關(guān)個體中,DXS7423基因座檢出4個等位基因13～16,基因頻率分布范圍0.0057～0.5029;DXS6799基因座檢出7個等位基因9～15,基因頻率分布范圍0.0058～0.4017。χ2檢驗結(jié)果表明男女性人群之間兩個基因座的等位基因頻率分布均無顯著性差異(P0.05),因此可以合并男女?dāng)?shù)據(jù)進(jìn)行總體等位基因頻率的統(tǒng)計。 DXS7423、DXS6799基因座在山西漢族96名無關(guān)女性個體中分別檢出7、13種基因型,兩基因座女性基因型頻率分布均符合Hardy-Weinberg平衡(P0.05)。兩個基因座女性個人識別率分別為0.8020、0.8963;非父排除率分別為0.3425、0.4973;男性個人識別率分別為0.5767、0.7428;合并數(shù)據(jù)后得各基因座的多態(tài)性信息含量分別為0.6795、0.7643。在154名無關(guān)男性個體中兩個基因座組成的單倍型觀察到19種,單倍型多樣性、個人識別率、非父排除率分別為0.8890、0.8890、0.7947。 (2)個體組織同一性:同一女性尸體不同組織DNA分型結(jié)果表明,兩基因座在同一個體中均具有組織同一性,符合STR基因座法醫(yī)學(xué)應(yīng)用標(biāo)準(zhǔn)。 (3)遺傳穩(wěn)定性: 30例已經(jīng)確定父女關(guān)系的兩代家系中,父親的X染色體均能穩(wěn)定地遺傳給女兒,符合孟德爾遺傳規(guī)律。 結(jié)論DXS7423、DXS6799基因座在山西漢族人群中均具有較高的遺傳多態(tài)性和遺傳穩(wěn)定性,在法醫(yī)學(xué)應(yīng)用、人類遺傳學(xué)研究等領(lǐng)域中具有重要價值。
[Abstract]:Objective to investigate the allele frequency distribution, haplotype frequency distribution and related genetic parameters of DXS7423,DXS6799 locus in Shanxi Han population, so as to provide basic data for the establishment of population genetic database of human X chromosome STR locus. The feasibility of its forensic application was discussed. Methods (1) sampling: 250 unrelated individuals of Shanxi Han nationality (male 154, female 96) were randomly selected for polymorphism analysis of two loci, and 30 cases of disjoint blood were collected for mutation observation. Blood, muscle, heart, liver, kidney and skin tissues of the same female cadaver were collected for identity observation. (2) Genomic DNA was extracted by phenol-chloroform organic solvent method and amplified by PCR. The allele electrophoresis bands were compared with allele Ladder by 8% non-denatured polyacrylamide gel electrophoresis and silver nitrate staining. The nomenclature was carried out according to the naming principle recommended by the (ISFH) DNA Committee of the International Society of Forensic Medicine. (3) data processing: the allele frequency, genotype frequency and haplotype frequency were calculated by direct calculation; The allele frequency difference of male and female population was compared by 蠂 2 test. The Hardy-Weinberg equilibrium coincidence test and the allele frequency difference of different populations were compared in female samples. The genetic parameters were calculated. Results (1) in 250 unrelated individuals of Shanxi Han nationality, 4 alleles were detected in the DXS7423 locus, and the frequency of the alleles was 0.0057 / 0.5029; Seven alleles were detected in DXS6799 loci, and the frequency distribution range was 0.0058, 0.4017.The results of 蠂 2 test showed that there was no significant difference in allele frequency distribution between male and female (P0.05). Therefore, the total allele frequency statistics can be combined with male and female data. DXS7423,DXS6799 loci were detected in 96 unrelated female individuals of Shanxi Han nationality, and 13 genotypes were detected respectively. The frequencies of the two loci were in accordance with the Hardy-Weinberg balance (P0.05). The personal recognition rate of the two loci was 0.8020 / 0.8963, the non-paternal exclusion rate was 0.3425 / 0.4973, and the male's personal recognition rate was 0.5767 / 0.7428, respectively. The polymorphic information content of each locus was 0.6795 and 0.7643, respectively. 19 haplotypes composed of two loci were observed in 154 unrelated male individuals. The haplotypes diversity, individual recognition rate and non-paternal exclusion rate were 0.8890 / 0.8890 / 0.7947, respectively. (2) individual tissue identity: the results of DNA typing in different tissues of the same female cadaver showed that the two loci had tissue identity in the same body, which was in accordance with the standard of forensic application of STR locus. (3) genetic stability: in 30 families with established paternal and daughter relationships, the X chromosome of the father could be inherited to his daughter stably, which was in accordance with the Mendelian inheritance law. Conclusion DXS7423,DXS6799 loci have high genetic polymorphism and genetic stability in Shanxi Han population and are of great value in forensic application and human genetics research.
【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】：2009
【分類號】：D919

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