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  本文關鍵詞： 法醫(yī)物證學 SNP 祖先信息位點 種族來源推斷　出處：《南方醫(yī)科大學》2017年碩士論文　論文類型：學位論文

【摘要】：目的:對篩選的一組祖先信息性SNPs位點并基于SNaPshotTM技術構(gòu)建的27-plex SNPs復合擴增系統(tǒng)進行優(yōu)化,評估27-plex SNPs復合擴增系統(tǒng)的靈敏度和種屬特異性,應用27-plex SNPs復合擴增系統(tǒng)分析不同人群的遺傳成分構(gòu)成與群體來源,驗證27-plex SNPs復合擴增系統(tǒng)推斷種族來源的效能。方法:對27-plex SNPs復合擴增系統(tǒng)的PCR引物濃度和延伸引物濃度進行進一步優(yōu)化,驗證27-plex SNPs復合擴增系統(tǒng)的靈敏度和種屬特異性;用該系統(tǒng)檢測非洲、華南地區(qū)漢族、回族、苗族、彝族、藏族、維族、歐洲、中亞、西亞、南亞、東南亞、南美洲等13個人群的533份樣本,將其分型數(shù)據(jù)與HapMap數(shù)據(jù)庫的東亞(CHB)、歐洲(CEU)、非洲(YRI)3個代表人群的分型數(shù)據(jù)進行聚類分析。通過Structure軟件分析獲取個體的祖先來源成分和人群的成分構(gòu)成,結(jié)合構(gòu)建的數(shù)據(jù)庫計算匹配概率;判斷46份盲測樣本的種族來源。結(jié)果:獲得27-plex SNPs復合擴增系統(tǒng)最佳的PCR引物濃度和延伸引物濃度;該系統(tǒng)靈敏度達0.125ng;除猩猩和猴子分別檢出20和6個位點,其余動物樣本除rs10496971位點外均未見擴增產(chǎn)物;該系統(tǒng)可以進行洲際人群區(qū)分,但是無法區(qū)分東南亞與東亞人群,無法細分廣東漢族與彝族、回族、苗族和藏族等少數(shù)民族人群;盲測樣本洲際人群推斷的準確率為100%。結(jié)論:27-plex SNP復合擴增系統(tǒng)靈敏度高、特異性好,可準確區(qū)分個體的東亞、非洲或歐洲祖先成分,為偵破案件提供重要的線索。但該系統(tǒng)不具備亞人群區(qū)分效力,有待后續(xù)篩選更多的特異性祖先信息標記,以滿足區(qū)分東南亞人群以及中國不同族群的需要。
[Abstract]:Objective: to optimize the 27-plex SNPs multiplex amplification system based on SNaPshotTM and to evaluate the sensitivity and species specificity of 27-plex SNPs multiplex amplification system. The genetic composition and population origin of different populations were analyzed by 27-plex SNPs multiplex amplification system. Methods: to optimize the PCR primer concentration and extension primer concentration of 27-plex SNPs multiplex amplification system, and verify the sensitivity and species specificity of 27-plex SNPs multiplex amplification system. The system was used to detect 533 samples from 13 populations in Africa, South China, Han, Hui, Miao, Yi, Tibetan, Uygur, Europe, Central Asia, West Asia, South Asia, Southeast Asia and South America. The genotyping data were analyzed by cluster analysis with the classification data of three representative populations in HapMap database, such as HapMap database. The origin components of individual ancestors and the composition of human population were analyzed by Structure software. The matching probability was calculated based on the constructed database, and the ethnic origin of 46 blind samples was determined. Results: the optimal PCR primer concentration and extension primer concentration of 27-plex SNPs compound amplification system were obtained. The sensitivity of the system was 0.125 ng; except for orangutans and monkeys, 20 and 6 loci were detected respectively, and no amplification products were found in other animal samples except for rs10496971 loci. The system could be used for intercontinental population differentiation, but could not distinguish Southeast Asian and East Asian populations. It is impossible to subdivide the Han nationality, Yi nationality, Hui nationality, Miao nationality and Tibetan nationality in Guangdong, and the accuracy of intercontinental population inference is 1000.Conclusion the multiplex SNP amplification system has high sensitivity and specificity, and can accurately distinguish the individual in East Asia. The African or European ancestry component provides important clues for the detection of cases. But the system does not have subpopulation-specific effects, pending further screening of specific ancestral information markers. To meet the needs of distinguishing Southeast Asian and different ethnic groups in China.
【學位授予單位】：南方醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：D919

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1 馮杏玲;27-plex SNPs系統(tǒng)推斷未知DNA供者洲際人群來源效能的研究[D];南方醫(yī)科大學;2017年

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本文編號：1500430