基于Powerplex 21检测系统对福建汉族群体遗传多态性分析及无关个体基因型比对的研究
发布时间：2018-11-20 18:13
【摘要】：目的：研究Powerplex21荧光复合扩增体系（PP21检测系统）的20个常染色体STR基因座在福建地区汉族群体的遗传多态性，评估其法医学应用价值；建立常染色体STR数据库，并对该数据库中两个无关个体基因型进行比对分析，了解在具有15个STR基因座和20个STR基因座的检测系统中两个无关个体的STR基因座均符合孟德尔遗传定律的概率，为法医物证二联体亲权鉴定的规范化和保证亲权鉴定结果的准确性和科学性提供思路与依据。 方法:（1）随机选取福建汉族无关个体850名为研究对象，，采用Powerplex21荧光复合扩增体系，以PCR复合扩增和毛细管电泳技术对D1S1656等20个常染色体STR基因座进行基因分型。应用Modified-powerstates软件进行Hardy-Weinberg平衡检验,计算各STR基因座等位基因频率、杂合度（H)，个人识别力（DP)、多态性信息含量（PIC）、非父排除率（PE）、匹配概率（PM)等法医学参数。 （2）基于DNA盲比技术的亲权鉴定家系检索比对软件，将13576个日常检案的无关个体检材信息和常染色体STR基因座分型结果录入该软件，建立包含Identifiler（ID）、Sinofiler(SINO)、Powerplex16(PP16)、 PP21检测系统的常染色体STR数据库。 （3）从上述数据库中随机选取721位基于PP21检测系统进行常染色体STR基因座分型的个体，运用DNA盲比技术的亲权鉴定家系检索比对软件，以自动比对方式进行无关个体基因型比对。统计数据库中分别与721位个体在15个和20个STR基因座均符合孟德尔遗传定律的无关个体的比中概率。计算其中78例假定二联体的累计父权指数(combined paternity index,CPI)值与累计父权相对机会(relative chance ofpaternity,RCP)值。 （4）对15个STR基因座均符合孟德尔遗传定律的假定二联体增加检测PP21检测系统；仍不能排除的二联体及在PP21检测系统的20个STR基因座均符合孟德尔遗传定律的假定二联体，进一步增加检测Investigator HD plex和Investigator Argus X-12检测系统。 结果:（1）PP21检测系统的20个常染色体STR基因座在福建汉族群体中发现257种等位基因，分布均符合Hardy-Weinberg平衡(pO.05),等位基因频率介于0.0006～0.5671。等位基因平均杂合度为0.797，多态性信息含（PIC）均大于0.5，属于高度多态性信息含量。除CSF1PO（0.893）、TPOX（0.772）、TH01（0.828）、D3S1358（0.873）外的个体识别能力均大于0.9，杂合度（H）除TPOX（0.594）、TH01（0.662）外均大于0.7。 （2）PP21检测系统在福建汉族群体中共发现24个稀有等位基因（off-ladder，OL），出现次数为1～13次，出现频率0.0006～0.0076，其中13个OL基因为国内首次报道。 （3）构建了具有13576条无关个体的常染色体STR基因座分型结果的常染色体STR数据库。在随机选取的721位个体中，有387位比中与之具有15个基因座均符合孟德尔遗传定律的无关个体，其中4位比中与之具有20个STR基因座均符合孟德尔遗传定律的无关个体，比中概率分别为2.85%和0.57%。 （4）在上述比中的STR基因座分型结果中，随机选取78例无关假定二联体，计算CPI与RCP数值，CPI值最低为7.67(RCP88.46%),最高258602.95(RCP99.99%),仍有10例假定二联体无法排除亲缘关系。对其进一步分别以PP21、Investigator HDplex和Investigator Argus X-12检测系统追加检测STR基因座后，每例均有3～15个STR基因座不符合孟德尔遗传定律，均排除了亲缘关系。 结论:（1）PP21检测系统的20个常染色体STR基因座在福建汉族人群中基因分布符合Hardy-Weinberg平衡，提供的多态信息量大，具有较高的非父排除率和个体识别能力，具有较高法医学应用价值。 （2）建立常染色体STR数据库，最好采用含有20个STR基因座检测系统，不排除在检测系统里加进少数几个中国人群识别能力强的性染色体STR基因座。 （3）在常染色体STR数据库中，两个无关个体之间15个STR基因座均符合孟德尔遗传定律的概率较高，单纯以遗传学证据CPI和RCP数值进行判定，容易出现误判。因此进行亲权鉴定至少应采用20个常染色体STR基因座检测系统，尤其对于二联体案例。特殊情况下还应加做性染色体STR基因座的检测系统或其它检测技术，以保证亲权鉴定结果的准确性和科学性。
[Abstract]:Objective: To study the genetic polymorphism of the 20 autosomal STR loci of the Powerflex21 fluorescence composite amplification system (PP21 detection system) in the Han population in Fujian and to evaluate the value of its forensic application. and comparing the two independent individual genotypes in the database to know that the STR loci of two unrelated individuals in the detection system with the 15 STR loci and the 20 STR loci all met the probability of Mendelian's genetic law, It provides a train of thought and basis for the standardization of the paternity test and the accuracy and the scientific nature of the paternity test. Methods: (1) The non-unrelated individuals of the Han nationality in Fujian were randomly selected to be named as the research object, and the Powerflex21 fluorescence composite amplification system was used to carry out the PCR compound amplification and the capillary electrophoresis technique to the gene of 20 autosomal STR loci, such as D1S1656 and the like. The Hardy-Weinberg equilibrium test was carried out using Modified-powertrains software to calculate the allele frequency, heterozygosity (H), personal identification (DP), polymorphism information (PIC), non-parent exclusion rate (PE), and matching probability (PM) of each STR locus. (2) Based on the DNA-blind-ratio technology, the family-based expert system retrieval is compared with the software, and the independent medical examination material information of the 13576 daily detection cases and the typing result of the autosomal STR locus are entered into the software, and the autosomal S containing the Identifier (ID), the Sinofiler (SINO), the Powerflex16 (PP16) and the PP21 detection system is established. and (3) randomly selecting 721 individuals from the database to perform the autosomal STR locus typing based on the PP21 detection system, In the statistical database, none of the 15 and 20 STR loci in the statistical database met the Mendelian's law of inheritance. The probability of an individual's ratio is calculated. A total of 78 cases in which the accumulated parent weight index (CPI) value and the accumulated parent weight relative to the accumulated parent weight are assumed. (4) It is assumed that 15 STR loci are in accordance with Mendelian's law of heredity, and the detection system of PP21 is increased by increasing the detection of the PP21; the 20 STR loci that are still not excluded and the 20 STR loci in the PP21 detection system are in accordance with Mende The hypothesis of the law of genetic inheritance is to further increase the detection of the Investigator HD plex and the Investigator Ar The results were as follows: (1) The 20 autosomal STR loci in the PP21 detection system found 257 alleles in the Han population of Fujian. The distribution was in accordance with Hardy-Weinberg equilibrium (p0.05). The mean heterozygosity of the allele was 0. 0006-0. 5671. The average heterozygosity of the allele was 0.797, and the polymorphism information (PIC) was greater than 0.. 5. In addition to CSF1PO (0.893), TPOX (0.772), TH01 (0.828) and D3S1358 (0.873), the individual identification ability was more than 0.9, and the heterozygosity (H) was higher than that of TPOX (0.594), TH01. (0. 662) was more than 0.7. (2) PP21 detection system found 24 rare alleles (OL) in the Han population in Fujian. The number of occurrence times was 1-13 times, and the frequency was 0.0006-0.0076. 13 of them were first reported in China. (3) The normal chromosome S with 13576 unrelated individuals was constructed. The autosomal STR database of the results of the genotyping of the TR locus. In the randomly selected 721-bit individuals, there were no independent individuals with 15 loci in the 387-bit ratio that met the Mendelian's genetic law, of which there were 20 STR loci in the 4-bit ratio that were independent of the Mendelian's law of inheritance. The results of STR locus in the above-mentioned ratio were 2.85% and 0.57%, respectively. (4) In the results of STR loci in the above-mentioned ratio, 78 cases were randomly selected, and the CPI and RCP values were calculated, and the CPI was at least 7.67 (RCP88. 46%), and the highest was 258602.95 (RCP99). There were still 10 cases in which the genetic relationship could not be ruled out by the second concatemer. After the addition of the STR loci in the system by the PP21, the Investigator Hplex and the Investigator Argus X-12, 3 to 15 ST were observed in each case. Conclusion: (1) The genetic distribution of the 20 autosomal STR loci in the PP21 detection system is in accordance with the Hardy-Weinberg equilibrium in the Han population of Fujian. High non-parent exclusion rate and individual identification ability, with higher forensic application value. (2) Establishment of the autosomal STR database, preferably with 20 STR locus detection systems, not excluded In the system, a few STR loci with strong ability to identify the Chinese population are added. (3) In the autosomal STR database, the 15 STR loci between the two unrelated individuals are in line with the general rule of Mendelian's genetic law. The rate is high, and it is easy to judge the PI and RCP value of the genetic evidence, so it is easy to misjudge. Therefore, the paternity test is carried out. At least 20 autosomal STR loci should be used to detect the system, especially for the case of a two-body. In particular cases, a sex chromosome STR base should be added.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R394
[Abstract]:Objective: To study the genetic polymorphism of the 20 autosomal STR loci of the Powerflex21 fluorescence composite amplification system (PP21 detection system) in the Han population in Fujian and to evaluate the value of its forensic application. and comparing the two independent individual genotypes in the database to know that the STR loci of two unrelated individuals in the detection system with the 15 STR loci and the 20 STR loci all met the probability of Mendelian's genetic law, It provides a train of thought and basis for the standardization of the paternity test and the accuracy and the scientific nature of the paternity test. Methods: (1) The non-unrelated individuals of the Han nationality in Fujian were randomly selected to be named as the research object, and the Powerflex21 fluorescence composite amplification system was used to carry out the PCR compound amplification and the capillary electrophoresis technique to the gene of 20 autosomal STR loci, such as D1S1656 and the like. The Hardy-Weinberg equilibrium test was carried out using Modified-powertrains software to calculate the allele frequency, heterozygosity (H), personal identification (DP), polymorphism information (PIC), non-parent exclusion rate (PE), and matching probability (PM) of each STR locus. (2) Based on the DNA-blind-ratio technology, the family-based expert system retrieval is compared with the software, and the independent medical examination material information of the 13576 daily detection cases and the typing result of the autosomal STR locus are entered into the software, and the autosomal S containing the Identifier (ID), the Sinofiler (SINO), the Powerflex16 (PP16) and the PP21 detection system is established. and (3) randomly selecting 721 individuals from the database to perform the autosomal STR locus typing based on the PP21 detection system, In the statistical database, none of the 15 and 20 STR loci in the statistical database met the Mendelian's law of inheritance. The probability of an individual's ratio is calculated. A total of 78 cases in which the accumulated parent weight index (CPI) value and the accumulated parent weight relative to the accumulated parent weight are assumed. (4) It is assumed that 15 STR loci are in accordance with Mendelian's law of heredity, and the detection system of PP21 is increased by increasing the detection of the PP21; the 20 STR loci that are still not excluded and the 20 STR loci in the PP21 detection system are in accordance with Mende The hypothesis of the law of genetic inheritance is to further increase the detection of the Investigator HD plex and the Investigator Ar The results were as follows: (1) The 20 autosomal STR loci in the PP21 detection system found 257 alleles in the Han population of Fujian. The distribution was in accordance with Hardy-Weinberg equilibrium (p0.05). The mean heterozygosity of the allele was 0. 0006-0. 5671. The average heterozygosity of the allele was 0.797, and the polymorphism information (PIC) was greater than 0.. 5. In addition to CSF1PO (0.893), TPOX (0.772), TH01 (0.828) and D3S1358 (0.873), the individual identification ability was more than 0.9, and the heterozygosity (H) was higher than that of TPOX (0.594), TH01. (0. 662) was more than 0.7. (2) PP21 detection system found 24 rare alleles (OL) in the Han population in Fujian. The number of occurrence times was 1-13 times, and the frequency was 0.0006-0.0076. 13 of them were first reported in China. (3) The normal chromosome S with 13576 unrelated individuals was constructed. The autosomal STR database of the results of the genotyping of the TR locus. In the randomly selected 721-bit individuals, there were no independent individuals with 15 loci in the 387-bit ratio that met the Mendelian's genetic law, of which there were 20 STR loci in the 4-bit ratio that were independent of the Mendelian's law of inheritance. The results of STR locus in the above-mentioned ratio were 2.85% and 0.57%, respectively. (4) In the results of STR loci in the above-mentioned ratio, 78 cases were randomly selected, and the CPI and RCP values were calculated, and the CPI was at least 7.67 (RCP88. 46%), and the highest was 258602.95 (RCP99). There were still 10 cases in which the genetic relationship could not be ruled out by the second concatemer. After the addition of the STR loci in the system by the PP21, the Investigator Hplex and the Investigator Argus X-12, 3 to 15 ST were observed in each case. Conclusion: (1) The genetic distribution of the 20 autosomal STR loci in the PP21 detection system is in accordance with the Hardy-Weinberg equilibrium in the Han population of Fujian. High non-parent exclusion rate and individual identification ability, with higher forensic application value. (2) Establishment of the autosomal STR database, preferably with 20 STR locus detection systems, not excluded In the system, a few STR loci with strong ability to identify the Chinese population are added. (3) In the autosomal STR database, the 15 STR loci between the two unrelated individuals are in line with the general rule of Mendelian's genetic law. The rate is high, and it is easy to judge the PI and RCP value of the genetic evidence, so it is easy to misjudge. Therefore, the paternity test is carried out. At least 20 autosomal STR loci should be used to detect the system, especially for the case of a two-body. In particular cases, a sex chromosome STR base should be added.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R394
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