河南汉族人群15个STR基因座的遗传多态性及其法医学应用研究

发布时间：2018-03-15 17:36

本文选题：河南　切入点：汉族　出处：《郑州大学》2010年硕士论文　论文类型：学位论文

【摘要】： 目的短串联重复序列(short tandem repeat, STR)是法医学中常用的遗传标记,广泛应用于个人识别和亲权鉴定中。现在,越来越多的更适合法医学应用的基因座被发现,发展新的DNA扩增试剂盒成为可能,也很必要。美国应用生物系统公司开发研制了AmpF. STR~(?) Sinofiler. PCR试剂盒,在此试剂盒中,识别力较低的TH01、TPOX两个基因座替换成了在中国人群中能提供较多信息的两个基因座D6S1043和D12S391。但这个试剂盒的群体调查资料还很缺乏,需要逐渐积累。为了得到Sinofiler PCR试剂盒的法医学应用基础数据,评价其法医学应用价值,我们进行了本研究。方法收集河南地区汉族231个无关个体的血样,提取DNA,应用SinofilerPCR试剂盒检测15个基因座的等位基因分布。结果一、群体多态性和法医学参数：通过对河南地区汉族231个无关个体血样的分析,得到了15个STR基因座(D8S1179,D21S11,D7S820,CSF1P0,D3S1358,D13S317,D16S539,D2S1338,D19S433,vWA,D18S51,D6S1043,D12S391,D5S818,FGA)的基因型频率和等位基因频率,计算出的法医学参数显示D6S1043的PD值为0.9698,在15个基因座中最高。而D12S391的PD值为0.9504。其它基因座的PD值在0.9594(D2S1338)和0.8769(D3S1358)之间。非父排除率在0.7875(D2S1338)和0.4507(D3S1338)之间。累积匹配概率为9.81×10-19,累积非父排除概率为0.99999974,均高于Identifiler试剂盒(同一群体分别为2.67×10-17和0.99999611)。计算了杂合度(heterozygosity)的观察值和期望值、个人识别力(power of discrimination)、多态性信息含量(polymorphic information content)和其它人类遗传学参数。对15个基因座的基因型频率分布进行遗传平衡检验,结果显示除了D6S1043基因座外,其它14个基因座均符合Hardy-Weinberg平衡定律(精确检验,以p值为0.05作为显著性界限)。而D6S1043基因座HEW检验的p值为0.0223,经Bonferroni's校正后p值不具有显著性。二、用Arlequin软件检验每两个基因座之间的连锁不平衡(精确检验,1023permutations),结果显示在D12S391和D19S433、D12S391和D5S818、D13S317和D2S1338、D16S539和D21S11、D19S433和D5S818、D3S1358和D8S1179六对基因座之间的p值小于0.05,但是大于0.00047(Bonferroni's校正后的显著性界限)。在D18S51和D2S1338之间,p小于0.00047。在其它基因座之间,p值均大于0.05。三、用Arlequin软件进行不同群体之间等位基因频率的比较,结果显示河南地区汉族群体和北方(吉林、西安)汉族群体之间无差异。而河南汉族在5个基因座(D2S1338、D8S1179、D18S51、D19S433和vWA)与南方汉族或者上海(崇明岛)汉族存在差异(经Bonferronis校正后P值仍有意义)。同时发现等位基因频率只在南方汉族和北方汉族之间或者南方汉族与南方汉族之间存在差异。这一现象支持这一学说：汉族可以分为南方汉族和北方汉族,而且南方汉族具有更多的基因多样性。四、在这些基因座中,发现了13个稀有等位基因,其中D16S539基因座1个,D21S11基因座2个,D7S820基因座1个,D6S1043基因座4个,FGA基因座5个。13个稀有等位基因包括微变异体,频率在0.0022到0.0087之间。结论 1.Sinofiler PCR扩增试剂盒可以应用于汉族人群的法医学鉴定。和identifiler试剂盒相比,具有更强的个人识别和亲权鉴定能力。 2.本研究所得到的群体遗传学数据为Sinofiler PCR扩增试剂盒在河南汉族人群中的应用打下基础。同时,由于在北方汉族群体之间未发现等位基因频率分布的差异,这一数据可应用于北方汉族群体的法医学鉴定中。
[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.

【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：D919.1

【引证文献】