本文選題：法醫(yī)生物學(xué)　切入點(diǎn)：單核苷酸多態(tài)性(SNP)　出處：《復(fù)旦大學(xué)》2009年碩士論文

【摘要】： 目的:利用SNPlex平臺(tái)分型檢測(cè)X染色體上的48個(gè)SNP位點(diǎn),通過遺傳多態(tài)性的研究,評(píng)價(jià)其法醫(yī)學(xué)應(yīng)用價(jià)值,為特殊類型的案件如祖母與孫女的親緣關(guān)系鑒定、同父異母姐妹關(guān)系鑒定等提供鑒定思路和解決方法。 方法:從公共信息庫初步篩選得到167個(gè)X-SNP位點(diǎn),再優(yōu)選形成48個(gè)X-SNP位點(diǎn)組合,運(yùn)用優(yōu)化后的SNPlex技術(shù)對(duì)272份DNA樣本進(jìn)行分型檢測(cè),并考察方法的靈敏度;通過遺傳多態(tài)性分析,評(píng)判48個(gè)X-SNP位點(diǎn)的法醫(yī)學(xué)應(yīng)用價(jià)值;用測(cè)序方法驗(yàn)證SNPlex分型結(jié)果的準(zhǔn)確性。 結(jié)果:通過對(duì)中國華東地區(qū)漢族272份血樣進(jìn)行DNA多態(tài)性研究,得到48個(gè)X-SNP位點(diǎn)的等位基因頻率及遺傳多態(tài)性參數(shù),并通過測(cè)序的方式對(duì)分型結(jié)果進(jìn)行了驗(yàn)證,測(cè)序結(jié)果與分型結(jié)果吻合率達(dá)99.17%。對(duì)雜合度、多態(tài)信息含量、個(gè)體識(shí)別能力以及非父排除率等遺傳多態(tài)性參數(shù)的統(tǒng)計(jì)分析表明,本課題選擇的48個(gè)X-SNP位點(diǎn)除rs6527549外,均具有高信息量。 結(jié)論:篩選得到的X-SNP位點(diǎn)具有法醫(yī)生物學(xué)應(yīng)用價(jià)值;48個(gè)X-SNP位點(diǎn)的SNPlex檢測(cè)方法成功率高、特異性好、準(zhǔn)確性高、儀器兼容性好、中等位點(diǎn)通量和高樣本通量,符合法醫(yī)生物學(xué)檢測(cè)需要。
[Abstract]:Objective: to detect 48 SNP loci on X chromosome by SNPlex platform typing, and to evaluate their forensic application value by genetic polymorphism analysis, and to identify the relationship between grandmother and granddaughter in special cases.The identification of half-sisterhood and so on provides identification ideas and solutions.Methods: 167 X-SNP loci were preliminarily screened from the public information base, and 48 X-SNP loci were selected to form a combination of 48 X-SNP loci. 272 DNA samples were detected by using the optimized SNPlex technique, and the sensitivity of the method was investigated.The forensic application value of 48 X-SNP loci was evaluated and the accuracy of SNPlex typing was verified by sequencing.Results: the allele frequency and genetic polymorphism parameters of 48 X-SNP loci were obtained by DNA polymorphism analysis of 272 blood samples from Han nationality in East China. The results were verified by sequencing.The results of sequencing coincided with the typing results of 99.17%.Statistical analysis of genetic polymorphism parameters such as heterozygosity, polymorphic information content, individual recognition ability and non-paternal exclusion rate showed that the 48 X-SNP loci selected in this study had high information content except rs6527549.Conclusion: the selected X-SNP loci have the value of forensic biological application, and the 48 X-SNP loci have high success rate, good specificity, high accuracy, good instrument compatibility, medium site flux and high sample throughput.Meet the needs of forensic biology test.
【學(xué)位授予單位】：復(fù)旦大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2009
【分類號(hào)】：D919

【引證文獻(xiàn)】

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1 許淼;李淑瑾;叢斌;馬春玲;;X染色體遺傳標(biāo)記的研究應(yīng)用進(jìn)展[J];中國司法鑒定;2013年02期

2 宋偉;王鳳格;田紅麗;易紅梅;王璐;趙久然;;利用核心SNP位點(diǎn)鑒別玉米自交系的研究[J];玉米科學(xué);2013年04期

相關(guān)碩士學(xué)位論文 前1條

1 王茜;SNaPshot方法構(gòu)建20個(gè)X-SNPs復(fù)合分型體系及河北漢族人群遺傳學(xué)調(diào)查[D];河北醫(yī)科大學(xué);2012年

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本文編號(hào)：1704575