基于Powerplex 21檢測(cè)系統(tǒng)對(duì)福建漢族群體遺傳多態(tài)性分析及無(wú)關(guān)個(gè)體基因型比對(duì)的研究
發(fā)布時(shí)間：2018-11-20 18:13
【摘要】：目的：研究Powerplex21熒光復(fù)合擴(kuò)增體系（PP21檢測(cè)系統(tǒng)）的20個(gè)常染色體STR基因座在福建地區(qū)漢族群體的遺傳多態(tài)性，評(píng)估其法醫(yī)學(xué)應(yīng)用價(jià)值；建立常染色體STR數(shù)據(jù)庫(kù)，并對(duì)該數(shù)據(jù)庫(kù)中兩個(gè)無(wú)關(guān)個(gè)體基因型進(jìn)行比對(duì)分析，了解在具有15個(gè)STR基因座和20個(gè)STR基因座的檢測(cè)系統(tǒng)中兩個(gè)無(wú)關(guān)個(gè)體的STR基因座均符合孟德爾遺傳定律的概率，為法醫(yī)物證二聯(lián)體親權(quán)鑒定的規(guī)范化和保證親權(quán)鑒定結(jié)果的準(zhǔn)確性和科學(xué)性提供思路與依據(jù)。 方法:（1）隨機(jī)選取福建漢族無(wú)關(guān)個(gè)體850名為研究對(duì)象，，采用Powerplex21熒光復(fù)合擴(kuò)增體系，以PCR復(fù)合擴(kuò)增和毛細(xì)管電泳技術(shù)對(duì)D1S1656等20個(gè)常染色體STR基因座進(jìn)行基因分型。應(yīng)用Modified-powerstates軟件進(jìn)行Hardy-Weinberg平衡檢驗(yàn),計(jì)算各STR基因座等位基因頻率、雜合度（H)，個(gè)人識(shí)別力（DP)、多態(tài)性信息含量（PIC）、非父排除率（PE）、匹配概率（PM)等法醫(yī)學(xué)參數(shù)。 （2）基于DNA盲比技術(shù)的親權(quán)鑒定家系檢索比對(duì)軟件，將13576個(gè)日常檢案的無(wú)關(guān)個(gè)體檢材信息和常染色體STR基因座分型結(jié)果錄入該軟件，建立包含Identifiler（ID）、Sinofiler(SINO)、Powerplex16(PP16)、 PP21檢測(cè)系統(tǒng)的常染色體STR數(shù)據(jù)庫(kù)。 （3）從上述數(shù)據(jù)庫(kù)中隨機(jī)選取721位基于PP21檢測(cè)系統(tǒng)進(jìn)行常染色體STR基因座分型的個(gè)體，運(yùn)用DNA盲比技術(shù)的親權(quán)鑒定家系檢索比對(duì)軟件，以自動(dòng)比對(duì)方式進(jìn)行無(wú)關(guān)個(gè)體基因型比對(duì)。統(tǒng)計(jì)數(shù)據(jù)庫(kù)中分別與721位個(gè)體在15個(gè)和20個(gè)STR基因座均符合孟德爾遺傳定律的無(wú)關(guān)個(gè)體的比中概率。計(jì)算其中78例假定二聯(lián)體的累計(jì)父權(quán)指數(shù)(combined paternity index,CPI)值與累計(jì)父權(quán)相對(duì)機(jī)會(huì)(relative chance ofpaternity,RCP)值。 （4）對(duì)15個(gè)STR基因座均符合孟德爾遺傳定律的假定二聯(lián)體增加檢測(cè)PP21檢測(cè)系統(tǒng)；仍不能排除的二聯(lián)體及在PP21檢測(cè)系統(tǒng)的20個(gè)STR基因座均符合孟德爾遺傳定律的假定二聯(lián)體，進(jìn)一步增加檢測(cè)Investigator HD plex和Investigator Argus X-12檢測(cè)系統(tǒng)。 結(jié)果:（1）PP21檢測(cè)系統(tǒng)的20個(gè)常染色體STR基因座在福建漢族群體中發(fā)現(xiàn)257種等位基因，分布均符合Hardy-Weinberg平衡(pO.05),等位基因頻率介于0.0006～0.5671。等位基因平均雜合度為0.797，多態(tài)性信息含（PIC）均大于0.5，屬于高度多態(tài)性信息含量。除CSF1PO（0.893）、TPOX（0.772）、TH01（0.828）、D3S1358（0.873）外的個(gè)體識(shí)別能力均大于0.9，雜合度（H）除TPOX（0.594）、TH01（0.662）外均大于0.7。 （2）PP21檢測(cè)系統(tǒng)在福建漢族群體中共發(fā)現(xiàn)24個(gè)稀有等位基因（off-ladder，OL），出現(xiàn)次數(shù)為1～13次，出現(xiàn)頻率0.0006～0.0076，其中13個(gè)OL基因?yàn)閲?guó)內(nèi)首次報(bào)道。 （3）構(gòu)建了具有13576條無(wú)關(guān)個(gè)體的常染色體STR基因座分型結(jié)果的常染色體STR數(shù)據(jù)庫(kù)。在隨機(jī)選取的721位個(gè)體中，有387位比中與之具有15個(gè)基因座均符合孟德爾遺傳定律的無(wú)關(guān)個(gè)體，其中4位比中與之具有20個(gè)STR基因座均符合孟德爾遺傳定律的無(wú)關(guān)個(gè)體，比中概率分別為2.85%和0.57%。 （4）在上述比中的STR基因座分型結(jié)果中，隨機(jī)選取78例無(wú)關(guān)假定二聯(lián)體，計(jì)算CPI與RCP數(shù)值，CPI值最低為7.67(RCP88.46%),最高258602.95(RCP99.99%),仍有10例假定二聯(lián)體無(wú)法排除親緣關(guān)系。對(duì)其進(jìn)一步分別以PP21、Investigator HDplex和Investigator Argus X-12檢測(cè)系統(tǒng)追加檢測(cè)STR基因座后，每例均有3～15個(gè)STR基因座不符合孟德爾遺傳定律，均排除了親緣關(guān)系。 結(jié)論:（1）PP21檢測(cè)系統(tǒng)的20個(gè)常染色體STR基因座在福建漢族人群中基因分布符合Hardy-Weinberg平衡，提供的多態(tài)信息量大，具有較高的非父排除率和個(gè)體識(shí)別能力，具有較高法醫(yī)學(xué)應(yīng)用價(jià)值。 （2）建立常染色體STR數(shù)據(jù)庫(kù)，最好采用含有20個(gè)STR基因座檢測(cè)系統(tǒng)，不排除在檢測(cè)系統(tǒng)里加進(jìn)少數(shù)幾個(gè)中國(guó)人群識(shí)別能力強(qiáng)的性染色體STR基因座。 （3）在常染色體STR數(shù)據(jù)庫(kù)中，兩個(gè)無(wú)關(guān)個(gè)體之間15個(gè)STR基因座均符合孟德爾遺傳定律的概率較高，單純以遺傳學(xué)證據(jù)CPI和RCP數(shù)值進(jìn)行判定，容易出現(xiàn)誤判。因此進(jìn)行親權(quán)鑒定至少應(yīng)采用20個(gè)常染色體STR基因座檢測(cè)系統(tǒng)，尤其對(duì)于二聯(lián)體案例。特殊情況下還應(yīng)加做性染色體STR基因座的檢測(cè)系統(tǒng)或其它檢測(cè)技術(shù)，以保證親權(quán)鑒定結(jié)果的準(zhǔn)確性和科學(xué)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.
【學(xué)位授予單位】：福建醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2013
【分類號(hào)】：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.
【學(xué)位授予單位】：福建醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2013
【分類號(hào)】：R394
【參考文獻(xiàn)】
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