發(fā)布時(shí)間：2018-05-01 07:11

  本文選題：單核苷酸多態(tài)性 + 個(gè)體識(shí)別��； 參考：《貴州醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:本研究旨在調(diào)查貴州地區(qū)漢族人群22個(gè)STR的遺傳多態(tài)性、觀察分析突變特點(diǎn),對(duì)其系統(tǒng)效能進(jìn)行評(píng)估。人類基因組數(shù)據(jù)庫中,按照個(gè)體識(shí)別單核苷酸多態(tài)性(Individual Identification single nucleotide polymorphisms,IISNPs)的標(biāo)準(zhǔn)篩選出滿足要求的單核苷酸多態(tài)性(single nucleotide polymorphisms,SNPs)位點(diǎn),通過單堿基延伸(Single base extension,SBE)反應(yīng)與毛細(xì)管電泳檢測(cè)技術(shù)構(gòu)建SNPs位點(diǎn)復(fù)合檢測(cè)體系,為現(xiàn)有STR和SNP檢驗(yàn)體系作補(bǔ)充。方法:1.應(yīng)用PowerPlex?Fusion試劑對(duì)2018份貴州地區(qū)漢族無關(guān)個(gè)體進(jìn)行22個(gè)常染色體STR的等位基因分型,統(tǒng)計(jì)貴州漢族人群等位基因頻率、法醫(yī)學(xué)參數(shù)、突變位點(diǎn)及頻率。2.在SNP數(shù)據(jù)庫里選擇20個(gè)符合要求的SNP位點(diǎn),根據(jù)公布的基因序列,應(yīng)用引物設(shè)計(jì)軟件Primer 5.0自行設(shè)計(jì)PCR引物,使用DNAMAN軟件自行設(shè)計(jì)單堿基延伸反應(yīng)引物。3.構(gòu)建復(fù)合PCR、復(fù)合單堿基延伸反應(yīng)檢測(cè)體系,應(yīng)用ABI 3500遺傳分析儀對(duì)SNPs位點(diǎn)進(jìn)行等位基因分型,3500 Data Collection V3.0軟件搜集數(shù)據(jù),GeneMapper ID-X 1.4軟件分析結(jié)果。4.應(yīng)用構(gòu)建的SNPs復(fù)合檢測(cè)體系調(diào)查103份貴州地區(qū)漢族無關(guān)個(gè)體的遺傳多態(tài)性,并對(duì)該SNPs復(fù)合檢測(cè)體系在親權(quán)鑒定中的應(yīng)用價(jià)值進(jìn)行評(píng)估。5.應(yīng)用構(gòu)建的SNPs復(fù)合檢測(cè)體系檢測(cè)5例貴州地區(qū)具有親緣關(guān)系的漢族二代家系鑒定樣本,分析其是否符合孟德爾遺傳規(guī)律。6.應(yīng)用該體系對(duì)一例22個(gè)STR分型突變累積父權(quán)指數(shù)不達(dá)104的案例進(jìn)行11個(gè)SNPs遺傳標(biāo)記的補(bǔ)充,統(tǒng)計(jì)其累積父權(quán)指數(shù)。結(jié)果:1.獲得貴州地區(qū)2018份漢族無關(guān)個(gè)體22個(gè)常染色體STR位點(diǎn)的群體遺傳學(xué)數(shù)據(jù),該抽樣調(diào)查的人群基因型頻率分布符合Hardy-Weinberg平衡。22個(gè)STR位點(diǎn)累積個(gè)人識(shí)別能力(CPD)為1-2×10-26,累積非父排除概率(CPE)為0.999 999 999,累積匹配概率(CMP)為1.1516×10-26。2.自行設(shè)計(jì)常染色體SNPs位點(diǎn)的PCR引物及單堿基延伸反應(yīng)引物,在20個(gè)SNPs位點(diǎn)中篩選出11個(gè)SNPs位點(diǎn)構(gòu)建復(fù)合檢測(cè)體系,獲得103份貴州地區(qū)漢族無關(guān)個(gè)體11個(gè)SNPs位點(diǎn)的等位基因頻率及法醫(yī)學(xué)參數(shù)。3.5例貴州地區(qū)漢族二代家系鑒定樣本,均符合孟德爾遺傳規(guī)律。4.應(yīng)用該體系對(duì)一例STR分型突變累積父權(quán)指數(shù)不達(dá)104的親子鑒定案例分析,肯定其親權(quán)關(guān)系。結(jié)論:1.本文研究的D1S1656等22個(gè)STR基因座,在貴州地區(qū)漢族人群中具備良好的遺傳多態(tài)性,可在法醫(yī)親子鑒定和個(gè)體識(shí)別中應(yīng)用。2.成功構(gòu)建含11個(gè)IISNPs位點(diǎn)的復(fù)合檢測(cè)體系,可作為現(xiàn)有STR檢測(cè)體系和SNP位點(diǎn)的補(bǔ)充。
[Abstract]:Objective: to investigate the genetic polymorphisms of 22 STR in Guizhou Han population and analyze the mutation characteristics and evaluate its systematic effectiveness. In the human genome database, single Identification single nucleotide polymorphisms (SNPs) were screened according to individual identification criteria for individual Identification single nucleotide polymorphisms (SNPs). The compound detection system of SNPs locus was constructed by single base extension (SBE) reaction and capillary electrophoresis (CE) to supplement the existing STR and SNP detection systems. Method 1: 1. The alleles of 22 autosomal STR alleles of 2018 unrelated individuals of Han nationality in Guizhou were classified with PowerPlex?Fusion reagent. The allelic frequencies, forensic parameters, mutation sites and frequencies of 22 autosomal STR alleles in Guizhou Han population were analyzed. Twenty SNP loci were selected from SNP database. According to the published gene sequence, PCR primers were designed by Primer 5.0 and single base extension primers .3were designed by DNAMAN software. ABI 3500 genetic analyzer was used to type the alleles of SNPs loci. The data were collected by using the software of 3 500 Data Collection V3.0. The results of GeneMapper ID-X 1.4 software were analyzed by using GeneMapper ID-X 1.4 software. The genetic polymorphisms of 103 unrelated individuals of Han nationality in Guizhou were investigated by using the constructed SNPs complex detection system, and the application value of the SNPs complex detection system in paternity test was evaluated. The constructed SNPs complex detection system was used to detect the identification samples of the second generation Han families in Guizhou area, and to analyze whether it was in accordance with the Mendelian heredity law. 6. This system was used to supplement 11 SNPs genetic markers in a case with 22 STR genotyping mutations whose cumulative paternity index was not up to 104, and its cumulative paternity index was counted. The result is 1: 1. Population genetic data of 22 autosomal STR loci in 2018 unrelated individuals of Han nationality in Guizhou were obtained. The genotype frequency distribution in this sample was consistent with the Hardy-Weinberg balance. The cumulative personal recognition ability of 22 STR loci was 1-2 脳 10-26, the cumulative non-paternal exclusion probability was 0.999 9999, and the cumulative matching probability was 1.1516 脳 10-26.2. PCR primers and single base extension primers for autosomal SNPs loci were designed and 11 SNPs loci were screened out of 20 SNPs loci to construct a complex detection system. The allelic frequencies of 11 SNPs loci and forensic medical parameters were obtained from 103 unrelated individuals of Han nationality in Guizhou. The identification samples of second-generation families of Han nationality in Guizhou were all in accordance with the Mendelian genetic rule .4. The system was used to analyze a case of paternity test in which the cumulative paternity index of STR mutation was not up to 104, and the paternity relationship was confirmed. Conclusion 1. The 22 STR loci studied in this paper have good genetic polymorphisms in Guizhou Han population and can be used in forensic paternity test and individual identification. A complex detection system containing 11 IISNPs loci was successfully constructed and can be used as a complement to existing STR detection systems and SNP loci.
【學(xué)位授予單位】：貴州醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：D919

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