本文選題：河南　切入點(diǎn)：漢族　出處：《鄭州大學(xué)》2010年碩士論文　論文類型：學(xué)位論文

【摘要】： 目的短串聯(lián)重復(fù)序列(short tandem repeat, STR)是法醫(yī)學(xué)中常用的遺傳標(biāo)記,廣泛應(yīng)用于個(gè)人識(shí)別和親權(quán)鑒定中。現(xiàn)在,越來越多的更適合法醫(yī)學(xué)應(yīng)用的基因座被發(fā)現(xiàn),發(fā)展新的DNA擴(kuò)增試劑盒成為可能,也很必要。美國應(yīng)用生物系統(tǒng)公司開發(fā)研制了AmpF. STR~(?) Sinofiler. PCR試劑盒,在此試劑盒中,識(shí)別力較低的TH01、TPOX兩個(gè)基因座替換成了在中國人群中能提供較多信息的兩個(gè)基因座D6S1043和D12S391。但這個(gè)試劑盒的群體調(diào)查資料還很缺乏,需要逐漸積累。為了得到Sinofiler PCR試劑盒的法醫(yī)學(xué)應(yīng)用基礎(chǔ)數(shù)據(jù),評(píng)價(jià)其法醫(yī)學(xué)應(yīng)用價(jià)值,我們進(jìn)行了本研究。 方法收集河南地區(qū)漢族231個(gè)無關(guān)個(gè)體的血樣,提取DNA,應(yīng)用SinofilerPCR試劑盒檢測15個(gè)基因座的等位基因分布。 結(jié)果一、群體多態(tài)性和法醫(yī)學(xué)參數(shù)：通過對河南地區(qū)漢族231個(gè)無關(guān)個(gè)體血樣的分析,得到了15個(gè)STR基因座(D8S1179,D21S11,D7S820,CSF1P0,D3S1358,D13S317,D16S539,D2S1338,D19S433,vWA,D18S51,D6S1043,D12S391,D5S818,FGA)的基因型頻率和等位基因頻率,計(jì)算出的法醫(yī)學(xué)參數(shù)顯示D6S1043的PD值為0.9698,在15個(gè)基因座中最高。而D12S391的PD值為0.9504。其它基因座的PD值在0.9594(D2S1338)和0.8769(D3S1358)之間。非父排除率在0.7875(D2S1338)和0.4507(D3S1338)之間。累積匹配概率為9.81×10-19,累積非父排除概率為0.99999974,均高于Identifiler試劑盒(同一群體分別為2.67×10-17和0.99999611)。計(jì)算了雜合度(heterozygosity)的觀察值和期望值、個(gè)人識(shí)別力(power of discrimination)、多態(tài)性信息含量(polymorphic information content)和其它人類遺傳學(xué)參數(shù)。對15個(gè)基因座的基因型頻率分布進(jìn)行遺傳平衡檢驗(yàn),結(jié)果顯示除了D6S1043基因座外,其它14個(gè)基因座均符合Hardy-Weinberg平衡定律(精確檢驗(yàn),以p值為0.05作為顯著性界限)。而D6S1043基因座HEW檢驗(yàn)的p值為0.0223,經(jīng)Bonferroni's校正后p值不具有顯著性。 二、用Arlequin軟件檢驗(yàn)每兩個(gè)基因座之間的連鎖不平衡(精確檢驗(yàn),1023permutations),結(jié)果顯示在D12S391和D19S433、D12S391和D5S818、D13S317和D2S1338、D16S539和D21S11、D19S433和D5S818、D3S1358和D8S1179六對基因座之間的p值小于0.05,但是大于0.00047(Bonferroni's校正后的顯著性界限)。在D18S51和D2S1338之間,p小于0.00047。在其它基因座之間,p值均大于0.05。 三、用Arlequin軟件進(jìn)行不同群體之間等位基因頻率的比較,結(jié)果顯示河南地區(qū)漢族群體和北方(吉林、西安)漢族群體之間無差異。而河南漢族在5個(gè)基因座(D2S1338、D8S1179、D18S51、D19S433和vWA)與南方漢族或者上海(崇明島)漢族存在差異(經(jīng)Bonferronis校正后P值仍有意義)。同時(shí)發(fā)現(xiàn)等位基因頻率只在南方漢族和北方漢族之間或者南方漢族與南方漢族之間存在差異。這一現(xiàn)象支持這一學(xué)說：漢族可以分為南方漢族和北方漢族,而且南方漢族具有更多的基因多樣性。 四、在這些基因座中,發(fā)現(xiàn)了13個(gè)稀有等位基因,其中D16S539基因座1個(gè),D21S11基因座2個(gè),D7S820基因座1個(gè),D6S1043基因座4個(gè),FGA基因座5個(gè)。13個(gè)稀有等位基因包括微變異體,頻率在0.0022到0.0087之間。 結(jié)論 1.Sinofiler PCR擴(kuò)增試劑盒可以應(yīng)用于漢族人群的法醫(yī)學(xué)鑒定。和identifiler試劑盒相比,具有更強(qiáng)的個(gè)人識(shí)別和親權(quán)鑒定能力。 2.本研究所得到的群體遺傳學(xué)數(shù)據(jù)為Sinofiler PCR擴(kuò)增試劑盒在河南漢族人群中的應(yīng)用打下基礎(chǔ)。同時(shí),由于在北方漢族群體之間未發(fā)現(xiàn)等位基因頻率分布的差異,這一數(shù)據(jù)可應(yīng)用于北方漢族群體的法醫(yī)學(xué)鑒定中。
[Abstract]:The purpose of short tandem repeat (short tandem, repeat, STR) is a common genetic marker of forensic science, widely used in personal identification and paternity testing. Now, more suitable for forensic applications more and more loci were found, the development of new DNA amplification kit can be applied, it is very necessary. Bio System Inc developed AmpF. STR~ (?) Sinofiler. PCR kit, the kit, recognition of lower TH01, two TPOX loci replaced can provide more information in the Chinese crowd of two loci of D6S1043 and D12S391. groups but the survey data this kit is still lacking, gradually accumulation. In order to get the Sinofiler PCR kit for forensic application of basic data, evaluate its application value in forensic medicine, we carry out this research.
Methods the blood samples from 231 unrelated individuals of the Han nationality in Henan were collected, DNA was extracted and the allele distribution of 15 loci was detected by SinofilerPCR kit.
As a result, population polymorphism and forensic parameters: the Han nationality in Henan area of 231 unrelated individuals were analysis, obtained 15 STR loci (D8S1179, D21S11, D7S820, CSF1P0, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D6S1043, D12S391, D5S818, FGA) gene genotype and allele frequencies were calculated, the forensic parameters showed D6S1043 PD value was 0.9698, the highest in 15 loci. D12S391 and PD values for the other 0.9504. loci at PD value of 0.9594 (D2S1338) and 0.8769 (D3S1358). The probability of exclusion in 0.7875 (D2S1338) and 0.4507 (D3S1338). The cumulative matching probability is 9.81 x 10-19, cumulative probability of exclusion was 0.99999974, was higher than that of Identifiler Kit (the same group were 2.67 * 10-17 and 0.99999611). The calculation of heterozygosity (heterozygosity) observed and expected values, personal recognition (power of Discrimination), polymorphism information content (polymorphic information content) and other human genetic parameters. Genetic equilibrium test of genotype frequency of 15 loci distribution. The results show that except for the D6S1043 locus, the other 14 loci were consistent with the Hardy-Weinberg equilibrium (exact test, with P value of 0.05 as the significant boundaries). And the D6S1043 locus HEW test p value is 0.0223, after Bonferroni's correction p value is not significant.
Two, using the Arlequin software test between each of the two loci in linkage disequilibrium (exact test, 1023permutations). The results showed that in the D12S391 and D19S433, D12S391 and D5S818, D13S317 and D2S1338, D16S539 and D21S11, D19S433 and D5S818, between D3S1358 and D8S1179 of the six loci p value is less than 0.05, but more than 0.00047 (significant boundaries after Bonferroni's correction). Between D18S51 and D2S1338, P is less than 0.00047. between the other loci, P values were greater than 0.05.
Three, compare the differences between groups of allele frequency with Arlequin software. The results showed that Han population and the northern Henan area (Jilin, Xi'an) no difference between Han and Han population. Henan in 5 loci (D2S1338, D8S1179, D18S51, D19S433 and vWA) and Shanghai (Chongming Island) or the Southern Han Han nationality the difference (after Bonferronis correction P value is still significant). At the same time the allele frequencies between only between the Southern Han and Han nationality in northern or southern Han and Southern Han differences were found. This phenomenon supports this theory: the Han nationality can be divided into southern and Northern Han Han and Southern Han, has more genetic diversity.
Four, among these loci, 13 rare alleles were found, including 1 D16S539 loci, 2 D21S11 loci, 1 D7S820 loci, 4 D6S1043 loci, 5.13 alleles of FGA loci, including microsatellite variants, with frequency between 0.0022 and 0.0087.
conclusion
1.Sinofiler PCR amplification kit can be applied to forensic identification of Han nationality. Compared with Identifiler kit, it has stronger ability of personal identification and paternity testing.
2. population genetic data obtained in this research lays the foundation for the application of the kit in the Han population in Henan is Sinofiler PCR amplification. At the same time, the distribution of allele frequency differences were found between the northern Han population, the data can be applied to the northern Han population in the forensic appraisal.

【學(xué)位授予單位】：鄭州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：D919.1

【引證文獻(xiàn)】

相關(guān)碩士學(xué)位論文 前1條

1 王文菲;法醫(yī)學(xué)常用15個(gè)STRs的檢測及其應(yīng)用于人群遺傳關(guān)系推斷的研究[D];鄭州大學(xué);2012年

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本文編號(hào)：1616253