贵州地区汉族人群THO1、TPOX、CSF1PO基因座的遗传多态性

为了解贵州地区汉族群体中THO1、TPOX、CSF1PO基因座的遗传多态性,获得这3个基因座的群体遗传学数据和法医学相关数据。采自贵州地区汉族无关个体的110份EDTA抗凝血样用Chelex法提取DNA,应用PCR复合扩增技术扩增样本后,聚丙烯酰胺凝胶电泳分型。对3个STR基因座的等位基因频率进行了调查分析,并与其他汉族人群的等位基因频率进行了比较。在贵州汉族群体中,3个基因座的基因型分布符合Hardy-Weinberg平衡。3个STR基因座总个体识别率为0.9986,累积非父排除率为0.832。表明这3个基因座在法医学个体识别及亲子鉴定中是很有价值的遗传标记系统。 Abstract:To understand the genetic polymorphism at THO1,TPOX,CSF1PO STR loci for Han population in Guizhou Province,and construct a preliminary database,EDTA-blood specimens were collected from the 110 unrelated individuals in Han population from Guizhou.The DNA samples were extracted with Chelex method and amplified by multiplex polymerase chain reaction.The PAGE was used to type the PCR products.The allele frequencies were compared with other Han populations.The genotype distributions of THO1,TPOX and CSF1PO were in accordance with Hardy-Weinberg equilibrium.The combined PD and PE were 0.9986 and 0.832 respectively.All of the three loci in this study provide useful marker for forensic paternity test and individual identification.     

广州地区106例汉族人群MICA和MICB微卫星基因座 单体型研究 The Study on the Haplotype of MICA and MICB Microsatellite Locus In Guangzhou Han Population

利用聚合酶链反应和荧光（6－FAM）自动化检测技术对广东地区汉族106例无亲缘关系样本进行MICA基因外显子5和MICB基因内含子1微卫星基因座多态性及其单体型分布调查。根据群体资料估算两者间的单体型频率、连锁不平衡参数、相对连锁不平衡参数。结果显示，广州地区汉族人群MICA和MICB微卫星基因座基因型分布符合Hardy-Weinberg平衡法则，共检出MICA微卫星基因座 5个等位基因， MICB微卫星基因座14个等位基因。其中MICA A5基因频率最高（0.2877），A4基因频率最低（0.1321）。MICB CA14等位基因频率最高（0.3255），CA19、CA28等位基因频率最低（0.0047），未检出CA27。21种MICA－MICB单体型频率大于1%(连锁不平衡参数>0), 其中单体型A5－CA14 (16.73%), A5.1－CA18 (8.75%), A4－CA26(3.76%)，A9－CA15(3.66%)和A6－CA21(2.61%)为强连锁常见单体型（χ2>3.84, P<0.05）。广州地区汉族人群MICA和MICB微卫星基因座多态性和单体型分布有其自身特点，MICA和MICB微卫星基因座适合做为遗传标志，用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。Abstract: This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14（16.73％）, A5.1- CA18 (8.75%), A4- CA26(3.76%)，A9-CA15(3.66%) and A6-CA21(2.61%)（χ2>3.84, P<0.05）, and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.     

广州地区106例汉族人群MICA和MICB微卫星基因座 单体型研究

利用聚合酶链反应和荧光（6－FAM）自动化检测技术对广东地区汉族106例无亲缘关系样本进行MICA基因外显子5和MICB基因内含子1微卫星基因座多态性及其单体型分布调查。根据群体资料估算两者间的单体型频率、连锁不平衡参数、相对连锁不平衡参数。结果显示,广州地区汉族人群MICA和MICB微卫星基因座基因型分布符合Hardy-Weinberg平衡法则,共检出MICA微卫星基因座 5个等位基因, MICB微卫星基因座14个等位基因。其中MICA A5基因频率最高（0.2877）,A4基因频率最低（0.1321）。MICB CA14等位基因频率最高（0.3255）,CA19、CA28等位基因频率最低（0.0047）,未检出CA27。21种MICA－MICB单体型频率大于1%(连锁不平衡参数>0), 其中单体型A5－CA14 (16.73%), A5.1－CA18 (8.75%), A4－CA26(3.76%),A9－CA15(3.66%)和A6－CA21(2.61%)为强连锁常见单体型（χ2>3.84, P<0.05）。广州地区汉族人群MICA和MICB微卫星基因座多态性和单体型分布有其自身特点,MICA和MICB微卫星基因座适合做为遗传标志,用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。Abstract: This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14（16.73％）, A5.1- CA18 (8.75%), A4- CA26(3.76%),A9-CA15(3.66%) and A6-CA21(2.61%)（χ2>3.84, P<0.05）, and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.     

DXS6804/DXS9896/GATA144D04基因座在中国汉族群体中的遗传多态性及其法医学应用Genetic

为了调查X染色体上DXS6804、DXS9896和 GATA144D04等3个STR基因座在中国汉族群体的遗传多态性及其法医学应用价值,来用PCR和聚丙烯酰胺凝胶电泳对X染色体3个STR基因座进行分型,并检验女性基因型频率分布是否符合Hardy-Weinberg平衡,计算法医学常用各种概率。DXS6804、DXS9896和 GATA144D04的非父排除率分别为0.5990、0.6220、0.4280,表明3个STR基因座在中国汉族群体均具有遗传多态性,χ2检验表明女性的基因型频率分布符合Hardy-Weinberg平衡。X染色体上的基因座DXS6804、DXS9896和 GATA144D04在中国汉族群体中具有较高的遗传多态性,可应用于法医学检验和群体遗传学分析。 Abstract： To investigate the genetic polymorphisms of three short tandem repeats loci of chromosome X in Chinese Han population in Chengdu area and its use in forensic science. Three X-chromosome linked short tandom repeat loci were analyzed by PCR followed by polyacrylamide gel electrophoresis. Hardy-Weinberg equilibrium was tested and forensic interested value was calculated .The power of exlcution of DXS6804、DXS9896和 GATA144D04 is 0.5990、0.6220、0.4280,respectively. The result showed that all the three STR loci were polymorphic among 100 unrelated females and 120 unrelated males from Chinese Han population. χ2 tests demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Three X-chromosome linked short tandem repeat loci have high polymorphism, they can be applied to forensic medicine and population genetics.     

用多重PCR检测上海地区汉族人群9个STR基因座的多态性

利用多重PCR和四色荧光（5-FAM,JOE,NED和ROX）自动化检测技术调查上海地区汉族人群D3S1358、vWA、FGA、D8S1179、 D21S11、 D18S51、D5S818、D13S317、D7S820等9个STR基因座多态性分布并计算该9个基因座的基因频率（Pi）、个体鉴别力（DP）、无偏倚期望杂合性（H）、多态性信息含量（PIC）和非父排除概率（PE）。结果显示：9个STR基因座的基因型分布符合Hardy-Weinberg平衡,9个STR基因座中FGA基因座的DP值最高为0.9584,D8S1179的H值最高为0.9403,D18S51的PIC值最高为0.8560,D18S51的PE值最高为0.7391,9个STR基因座累积个体鉴别力(CDP)为0.9999996,累积非父排除能力(CPE)为0.99991。9个STR基因座适合作为中国人群的遗传标志,用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。 Abstract:By multiplex amplification and four fluorescent technique,the polymorphism distributions of nine STR loci,D3S1358,vWA,FGA,D8S1179,D21S11,D18S51,D5S818,D13S317 and D7S820 were investigated in Shanghai Han population.Gene frequency (Pi),power of discrimination (DP),polymorphism information content (PIC) expected heterozygosity (H) and probability of paternity exclusion (PE) were calculated.All loci meet Hardy-Weinberg equilibrium.DP of FGA locus,H of D8S1179 locus,PIC of D18S51 locus and PE of D18S51 locus are the biggest among nine STR loci.Cumulate DP (CDP) of nine STR loci is 0.9999996,Cumulate PE (CPE) of nine STR loci is 0.99991.Nine STR loci could be used as the genetic markers of Chinese population in the studies of anthropology,linkage analysis of genetic disease genes,individual identification and paternity test in forensic medicine.     

内蒙古蒙古族人群DYS413基因座的多态性分布

为 调查DYS413(YCAⅢ) 基因座在内蒙古蒙古族人群中的分布情况,为其应用于法医学和人类遗传学研究提供依据,采集了120例内蒙古蒙古族男性无关个体静脉血,EDTA抗凝,用酚-氯仿法抽提DNA,PCR扩增DYS413基因座,6%非变性聚丙烯酰胺凝胶电泳,1‰硝酸银(AgNO3)染色分型。 在120例内蒙古蒙古族男性人群中共检出30个不同的单倍型,其频率介于0.0007至0.01361之间,其HD(单倍型多样性)值为0.94054。表明DYS413基因座在内蒙古蒙古族人群中分布好,对法医学和人类遗传学研究具有重要价值。Abstract： In order to provide the evidence for the application of DYS413(YCAⅢ) locus in forensic medicine and population genetics by investigating its polymorphism in the Mongolians lived in the Inner Mongolia Autonomous Region, China, to collect 120 unrelated male Mongolians’ venous blood, who lived in the Inner Mongolia Autonomous Region, and the blood is anticoagulant with EDTA, then to extract DNA by using the method of phenol-chloroform and amplify the DYS413 locus with PCR. The products were separated with 6% non-denatured polyacrylamide/bisacrylamide gels(19:1) electrophoresis and stained with 1‰ nitrate of silver(AgNO3). There are total 30 different haplotypes in Mongolians, the frequencies are from 0.0007 to 0.01361, the HD(haplotype diversity) is 0.94054. It shows that DYS413 locus is high valuable in the application of forensic medicine and population genetics.     

北京地区汉族群体D1S1612和D18S535基因座的遗传多态性

采用扩增片段长度多态性（Amp-FLP）分型技术,调查中国北京地区汉族群体D1S1612、D18S535 基因座的遗传多态性,获得等位基因频率分布。结果显示, D1S1612检出9个等位基因,25种基因型, D18S535检出9个等位基因,27种基因型。两个STR基因座的杂和度（H）分别为0.779、0.887;个人识别率（Dp）分别为0.901、0.927;非父排除率（PE）分别为0.564、0.770;多态信息容量（PIC）分别为0.723、0.796,卡方检验表明两个STR 基因座基因型频率分布符合Hardy-Weinberg平衡 (P>0.01 )。D1S1612和D18S535 基因座均属高杂合度、高识别能力的遗传标记,可用于法庭科学亲子鉴定和个人识别。 Abstract: To investigate the genetic polymorphism of D1S1612 and D18S535 in Han population of Beijing. Amp-FLP method was used. 9 alleles, 25 genotypes were observed for D1S1612 locus; and 9 alleles and 27 genotypes for D18S535 locus. All allele frequencies, heterozygosity (H), discrimination power (Dp), exclusion of paternity probability (PE) and polymorphism information content (PIC) were calculated. The allele distributions of the two loci were conformed to Hardy-Weinberg equilibrium (P>0.01). According to the results obtained in this study, it is suggested that both D1S1612 and D18S535 are useful genetic markers for individual identification and paternity testing in forensic science practice as well for genetic study.     

短串联重复序列D7S2201基因座的群体遗传学研究

用扩增片段长度多态性技术分析短串联重复序列D7S2201基因座的遗传多态性,在262个中国成都地区汉族无关个体及119个泰国曼谷地区泰人无关个体中分别发现7个和5个等位基因,首次获得该基因座在两群体中的频率分布,其等位基因片段大小范围为100～124bp。两群体的基因型频率分布均符合Hardy Weinberg平衡。该基因座在两群体中的个人识别能力（PD）、杂合度（H）、多态性信息含量（CPI）及非父排除率（PE）分别为0.7038、0.5992、0.4789、0.2900和0.7351、0.5882、0.5012、0.2770。家系调查证实了等位基因的传递遵循孟德尔遗传规律。χ2检验表明两群体间等位基因频率分布无显著性差异。 Abstract：The polymorphism of a new short tandem repeat (STR) locus D7S2201 was analyzed by using AmpFLP. Seven alleles were observed in 262 unrelated Chinese individuals living in Chengdu and five alleles in 119 unrelated Thai individuals living in Bangkok, the ranges of fragment size were 100～124bp. The genotypes distributions of D7S2201 locus in the two populations were in accordance with Hardy Weinberg equilibrium. The discriminating power (PD), observed heterozygosity (H), polymorphism information content (CPI) and power of exclusion (PE) were 0.7038, 05992, 04789, 02900 in Chinese population and 0.7351, 0.5882, 0.5012, 0.2770 in Thai population respectively. Family studies confirmed Mendelian inheritance of alleles. No significant difference was observed between the two populations.     

群体遗传不平衡条件下的结构基因遗传共适应特性

本研究以柴达木山羊、柴达木绒山羊和辽宁绒山羊三个群体共147只山羊为材料,利用聚丙烯酰胺凝胶电泳（PAGE）技术检测了5种血液蛋白质（酶）基因座的遗传多态性,并进行了结构基因遗传共适应的研究,结果发现：45个基因座组合中有10个基因座组合处于遗传不平衡状态,并且这些遗传不平衡皆单纯由遗传共适应差异造成;除辽宁绒山羊Tf-PA-3组合的遗传不平衡包含非等位基因间的遗传共适应差异外,其他基因座组合的遗传不平衡皆由等位基因间的共适应差异,即单基因座的遗传不平衡造成;LAP-EsD组合的共适应差异在群体间有遗传传递现象。 Abstract:With the technology of PAGE,the genetic polymorphism of blood protein and enzyme was investigated,and genetic co-adaptability among structural genes was studied in three goat populations(147 goats) including Chaidamu goat(CS),Chaidamu Cashmere goat(CRS) and Liaoning Cashmere goat(LRS) in Qinghai Province,China.The results were showed that the genetic disequilibrium of 10 locus combinations was found among 45 locus combinations in the three goat populations,and these genetic disequilibria were caused only by the difference of genetic co-adaptability among genes,because there didn′t exist the linkage disequilibrium among non-allelic genes.The genetic disequilibrium including the difference of genetic co-adaptability between non-allelic genes was only found at Tf-PA-3 locus combinations in LRS population,the other ones were all caused by the genetic disequilibrium at a single locus.The difference of genetic co-adaptability of LAP-EsD locus combinations could be messaged among different populations.     

中国维吾尔族人群MSY1(DYF155S1)基因座多态性及其结构特点

应用荧光标记MVR-PCR、Amp-FLP与DNA序列分析技术等检测106例中国维吾尔族人群无关男性个体血纱样品,揭示了中国维吾尔族人群Y特异的小卫星MSY1 (DYF155S1)基因座5′和3′端多态性及其基因结构特点。DYF155S1基因座的多态性表现为3个方面：（1）长度多态性;（2）5′端多态性;（3）3′端多态性。106例无关个体共检出37个不同长度的片段,5′端检出68个类型,3′端检出23个类型。综合这3方面多态性,106例个体间没有相同,其基因多样性（h）超过0.9999。DNA序列分析发现该基因座5′端表现有7种模块结构,3′端有2种模块结构。DYF155S2片段缺失率约为4.7%。MVR-PCR、Amp-FLP与DNA序列分析技术结合起来可以更充分地揭示人群Y染色体特异的小卫星MSY1（DYF155S1）基因座多态性,并提出命名方式,从而为人类遗传学及法医学研究提供了有用的方法和基础资料。 Abstract:The study is to reveal the diversity and gene structure of 5′ and 3′ end of DYF155S1 locus in Y-chromosome minisatellite among Chinese Uygur population.Fluorescent MVR-PCR（minisatellite variant repeat by PCR）,Amp-FLP(Amplified fragment length polymorphism) and DNA sequencing methods were used repectively to detect 106 unrelated males among Chinese Uygur population.The polymorphisms of DYF155S1 locus could be revealed in three aspects:(1) polymorphic length:the sizes of amplified fragments ranged from 1405 to 2505bp.There are 37 types found among the 106 unrelated males.(2) polymorphism at 5′ end of DYF155S1 locus,68 types found among the 106 unrelated males.(3) polymorphism at 3′ end of DYF155S1 locus,23 types found among the 106 unrelated males.In combination of these three aspects of polymorphism,none of the 106 unrelated males tested had the same allele,and the gene diversity(h) was over 0.9999.Seven and two types of modular structure were founded in the 5′ and 3′ end of DYF155S1 locus,respectively,by DNA sequencing.The alleles at DYF155S2 locus showed yes/no dimorphism and the rate of deletion was 4.7%.The polymorphisms of DYF155S1 locus were fully revealed by using combination of MVR-PCR, Amp-FLP and DNA sequencing methods, and we suggested the nomenclature for alleles of MVR loci.These methods are useful tools and provide basic data for the study of human genetics and forensic medicine.     

用多重PCR检测上海地区汉族人群9个STR基因座的多态性

利用多重PCR和四色荧光（5－FAM,JOE,NED和ROX）自动化检测技术调查上海地区汉族人群D3S1358、vWA、FGA、D8S1179、D21S11、D18S51、D5S818、D13S317、D7S820等9个STR基因座多态性分布并计算 该9个基因座的的基因频率（Pi)、个体鉴别力（DP）、无偏倚期望杂合性（H）、多态性信息含量（PIC）和非父排除概率（PE）。结果显示：9个STR基因座的基因型分布符合Hardy-Weinberg平衡,9个STR基因座中FGA基因座的DP值最高为0.9584,D8S1179的H值最高为0.9403,D18S51的PIC值最高为0.8560,D18S51的PE值最高为0.7391,9个STR基因座累积个体鉴别力（CDP)为0.9999996,累积非父排除能力（CPE）为0.99991。9个STR基因座适合作为中国人群的遗传标志,用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。     

Genetic variability and discriminating power of four microsatellite loci in Russian population

Allele and genotype frequencies of 4 STR loci (LPL, vWA, FES/FPS H F 13B), used in forensic medicine, were analyzed in Russian Siberian population. Genetic and molecular diversity of these polymorphic systems were characterized in comparison with US Caucasoid population. High discriminating power (PD = 0.99975) of the system of four studied STR loci was shown. Comparative analysis of genetic diversity in Russian population and Caucasoid US population revealed the significant differences between two populations and demonstrated that STR frequency data for US population should not be used for forensic expertise in Russia. The data obtained in the current investigation may be used as reference data for forensic medicine laboratories in Siberia.     

Paternity testing and forensic DNA typing by multiplex STR analysis using ABI PRISM 310 Genetic Analyzer

Short tandem repeats (STRs) are widespread throughout the human genome and are a rich source of highly polymorphic markers which can be detected by PCR. To gain a better appreciation for how the polymorphism at a particular locus impacts the individual identity, the present study was undertaken to explore the use of 15 STR loci in forensic investigation and paternity testing. Multiplex STR typing was used to study the 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) in addition to a gender identification marker, amelogenin, by capillary electrophoresis on 310 Genetic Analyzer. Samples from 85 trio and duo cases of disputed paternity were investigated. The data were analyzed to give information on paternity index, probability of paternity, frequency of number of exclusions and rate of mismatch at each STR locus. The method was also successfully applied to forensic personal identification in theft and murder cases. The results demonstrated that the STR typing is a reliable and robust tool for analyzing the forensic practice as well as for paternity testing. The advantages of using multiplex STR analysis over other conventional methods are discussed.     

Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR? Identifiler? kit in a Bhil Tribe Population from Gujarat state,India

MATERIALS AND METHODS:

The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317,D16S539, D2S1338, D19S433, vWA, TPOX, D18S51,D5S818, and FGA in AmpFLSTR® Identifiler™ kit from Applied Biosystems, Foster City, CA, USA were evaluated in saliva samples of 297 unrelated individuals from the Bhil Tribe population of Gujarat state, India to study genetic diversities and relatedness of this population with other national and international populations.

RESULTS:

Statistical analysis of the data revealed all loci were within Hardy-Weinberg Equilibrium expectations with the exception of the locus vWA (0.019) and locus D18S51 (0.016). The neighbour joining phylogeny tree and Principal Co-ordinate Analysis plot constructed based on Fst distances from autosomal STRs allele frequencies of the present study and other national as well as international populations show clustering of all the South Asian populations in one branch of the tree, while Middle Eastern and African populations cluster in a separate branch.

CONCLUSION:

Our findings reveal strong genetic affinities seen between the Indo-European (IE) speaking Bhil Tribe of Gujarat and Dravidian groups of South India.     

Number of STR Repeats as a Potential New Quantitative Genetic Marker for Complex Diseases, Illustrated by Schizophrenia

It has proved difficult to find strong and replicable genetic linkages for complex diseases, since each susceptibility gene makes only a modest contribution to onset. This is partly because high-efficacy genetic markers are not usually available. The aim of this article is to explore the possibility that the total number of tandem repeats in one STR locus, rather than the frequencies of different alleles, is a higher efficacy quantitative genetic marker. DNA samples were collected from schizophrenic patients and from a control population. Alleles of the short tandem repeats (STR) loci D3S1358, vWA, and FGA were determined using the STR Profiler Plus PCR amplification kit. The two groups did not differ statistically in the frequencies of alleles at the D3S1358, vWA, or FGA loci. However, a significant difference was obtained in the vWA locus when the total number of core unit repeats was compared between the schizophrenia and control groups (33.28+/-2.61 vs. 32.35+/-2.58, P<0.05). It seems that the number of STR repeats may be a new, quantitative, and higher efficacy genetic marker for directly indicating genetic predisposition to complex hereditary diseases such as schizophrenia.     

Genetic Variation and Discriminating Power of Four DNA Microsatellites in the Russian Population

The allele and genotype frequency distributions of four STRs (the LPL, vWA, FES/FPS, and F13B loci) commonly used in forensic medicine were studied with a sample of 200 ethnic Russians from Siberia. Genetic and molecular diversity of the four STRs was characterized in comparison with the American Caucasoid population. The set of the four STRs showed a high power of discrimination (PD = 0.99975). Comparison of the genetic variation at the four loci revealed a considerable difference between the Russian and American Caucasoid populations, precluding the use of data on allele frequencies in American Caucasoids for forensic testing in Russia. The results can be used as a reference in Siberia.     

内蒙古蒙古族人群DYS413基因座的多态性分布

为调查DYS413(YCA Ⅲ)基因座在内蒙古蒙古族人群中的分布情况,为其应用于法医学和人类遗传学研究提供依据,采集了120例内蒙古蒙古族男性无关个体静脉血,EDTA抗凝,用酚-氯仿法抽提DNA,PCR扩增DYS413基因座,6％非变性聚丙烯酰胺凝胶电泳,1‰硝酸银(AgNO_3)染色分型。在120例内蒙古蒙古族男性人群中共检出30个不同的单倍型,其频率介于0.0007至0.01361之间,其HD(单倍型多样性)值为0.94054。表明DYS413基因座在内蒙古蒙古族人群中分布好,对法医学和人类遗传学研究具有重要价值。     

Characterization of two New York City Jewish populations at six short tandem repeat loci

The Hasidic and non-Hasidic Jewish communities of New York City represent two subpopulations with long-documented histories of restrictive marriage patterns and a high degree of endogamy. As part of a continuing study into their genetic structure, allele frequencies were determined for the six tetrameric short tandem repeat (STR) loci: FESFPS, F13AO1, vWA, CSF1PO, TPOX, and THO1. All loci were tested for Hardy-Weinberg equilibrium (HWE) by three tests: chi-square analysis, Monte Carlo chi-square analysis. and the exact test. The non-Hasidic population failed to meet HWE at the F13A01, FESFPS, and CSF1PO loci by all three tests. The Hasidic population also failed to meet HWE at the same loci by some of the tests. Comparison of the Hasidic to the non-Hasidic population using an R x C contingency table demonstrated a similarity at only the vWA locus. Significant differences exist when comparing the two Jewish populations to a reference Caucasian population.     

Genetic data for 15 STR loci in a Kadazan-Dusun population from East Malaysia

Allele frequencies of 15 short tandem repeat (STR) loci, namely D5S818, D7S820, D13S317, D16S539, TH01, TPOX, Penta D, Penta E, D3S1358, D8S1179, D18S51, D21S11, CSF1PO, vWA, and FGA, were determined for 154 individuals from the Kadazan-Dusun tribe, an indigenous population of East Malaysia. All loci were amplified by polymerase chain reaction, using the Powerplex 16 system. Alleles were typed using a gene analyzer and the Genemapper ID software. Various statistical parameters were calculated and the combined power of discrimination for the 15 loci in the population was calculated as 0.999999999999999. These loci are thus, informative and can be used effectively in forensic and genetic studies of this indigenous population.     

PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation.

Allele and genotype frequencies for the highly polymorphic D1S80 locus were determined in a Finnish population sample by using PCR followed by high-resolution PAGE and silver staining, a procedure called the amplified-fragment-length polymorphism (Amp-FLP) technique. In 140 unrelated Finnish individuals 15 alleles and 43 phenotypes were observed. The D1S80 locus demonstrated a heterozygosity of .77, and the power of discrimination was .92 in this sample representing a genetically isolated Finnish population. The distribution of observed genotypes conformed to Hardy-Weinberg expectations. In 36 mother-child pairs Mendelian inheritance for the alleles at the D1S80 locus could be demonstrated in all cases, and no mutations were observed. The usefulness of the D1S80 locus for forensic casework was assessed by using Amp-FLP analysis of the D1S80 locus in 36 forensic cases including 18 rapes, 14 homicides, and 4 other violent crimes. In most cases valuable information was obtained using the Amp-FLP technique, and in no case was there indication of either false-positive or false-negative results.