中国青海藏族、汉族mtDNA控制区遗传多态性

目的研究中国青海藏族、汉族mtDNA控制区遗传多态性。方法收集69份青海藏族和青海汉族无关人群外周血样本，对其mtDNA控制区进行序列分析，计算多个多态性指标。结合其他民族mtDNA遗传资料，根据Nei法计算包括青海藏族和汉族群体在内的11个群体之间的Fst和Rst遗传距离．进行聚类分析，绘制系统发生树。结果在青海藏族和汉族群体mtDNA控制区中分别发现56和59个多态性位点。Rst遗传距离显示青海藏族人群与各人群之间遗传距离均较远（P〈0．05）；青海汉族人群与西安汉族、蒙古族、长沙汉族等人群之间距离较近（P〉0．05）。结论我国青海藏族和汉族人群mtDNA具有相对独特的遗传特征，其遗传多态性和个体识别力较高，可用于民族起源、迁徙、法医学个体识别等领域研究。     

云南玉溪汉族15个STR基因座多态性及遗传关系分析

目的调查玉溪汉族人群15个STR基因座的遗传多态性,并分析与国内部分地区汉族群体的遗传关系。方法采用AmpFLSTR Identifiler试剂盒,复合扩增15个STR基因座,计算基因频率及法医学参数;收集国内其他10个群体的遗传学资料进行遗传距离和聚类分析。结果玉溪汉族群体15个STR基因座等位基因及基因型分布符合Hardy-Weinberg平衡定律,PD值在0.790 6～0.968 1之间,PE值在0.315 9～0.733 5之间,PIC值在0.554 6～0.856 4之间,15个基因座累积个体识别力为0.999 999 999 999 999 99,累积非父排除率为0.999 998。不同地区汉族群体间遗传距离分析提示,玉溪汉族与成都汉族遗传距离最近(0.004 0),其次是河南(0.004 5)和潮汕(0.004 7);内蒙古最远(0.036 1)。结论云南玉溪汉族15个STR基因座具有较高的遗传多态性,适于该群体的法医学应用,遗传关系分析结果可为该群体的起源、迁徙及与其他群体的遗传关系分析提供参考。     

Y染色体OSU49基因座遗传多态性分析

目的调查Y染色体OSU49基因座在河南汉族群体中的遗传多态性,评价其法医学应用参数。方法知情同意情况下,采集300名河南汉族男性个体的血样本,荧光标记PCR,扩增产物采用ABI 3130遗传分析仪检测。根据分型检测结果,对不同等位基因进行序列分析(测序)。结果 OSU49基因座包含五核苷酸和四核苷酸两种核心序列。在河南汉族群体中基序表现为:(CTTTC)pCTT(CCCT)7T(CTTTC)1(TCTT)5(TCCT)m(TCTT)n TCT(TCCT)4,五核苷酸核心序列的重复次数为12~17,四核苷酸核心序列的重复次数为20~30,按其片段长度命名等位基因,共发现34个等位基因,GD值为0.918 6,DP值为0.915 5。结论 Y染色体OSU49基因座序列结构复杂,在河南汉族群体中具有较高的遗传多态性,可应用于法医学和人类遗传学研究中。     

Sequence analysis of STR polymorphisms at locus ACTBP2 in the Taiwanese population

A highly polymorphic sequence structure is reported in the human beta-actin related pseudogene 2 (ACTBP2) (SE33) locus in members of the Taiwanese Han population. A total of 100 unrelated members of the Taiwanese Han population were used in the study. Alleles that shared the same size but differ in their sequence are described to allow for inter laboratory sharing of data. PCR products amplified from this locus were separated by single-strand conformation polymorphism electrophoresis, the single-stranded DNA bands were excised from the gels, a second amplification performed, and then the PCR products were sequenced. All the alleles differed by either 2 or 4 bp. Sequence variations were observed as deletions or insertions in the repeat units AG (or AA) and AAAG. Additionally, transitions in the flanking regions were recorded. A total of 27 alleles with 71 associated genotypes were recorded if the alleles were defined by size, but 68 alleles with 88 associated genotypes were noted with the alleles were scored on the basis of sequence variation. The power of discrimination (Pd) of this single locus was 0.9874 making the human ACTBP2 a good alternative marker for individual identification and paternity testing.     

血小板同种抗原基因中9个单核苷酸多态性在广西地区壮族和汉族人群中的差异分析

目的检测血小板同种抗原基因中9个单核苷酸多态性在广西地区壮族和汉族人群中的差异。方法利用基于单碱基延伸的单核苷酸多态性（SNP）分型芯片,对广西壮族地区99例壮族个体和107例汉族个体的染色体基因组上10个SNP位点进行了分型,其中9个位于6个血小板同种抗原基因中,1个位于基因间区。此外,结合Hapmap计划第二期公布的四个人群的SNP分型数据,分析这六个人群的遗传结构。结果广西原住汉族人在等位基因频率上未检测到与当地壮族有显著性的差异位点,但在基因型频率上,rs630014和rs9441951两位点是显著差异的。广西壮族人与广西汉族、北京汉族人及日本东京人的遗传结构相近,但与祖先来自欧洲西部和北部的犹他州居民以及尼日利亚伊巴丹的约鲁巴人有显著差异的遗传成分存在。结论壮汉两族由于历史上的多次基因交流可能导致其遗传信息在很大程度上是相近的。     

Sequence analysis of STR polymorphisms at locus ACTBP2 in the Taiwanese population

A highly polymorphic sequence structure is reported in the human beta-actin related pseudogene 2 (ACTBP2) (SE33) locus in members of the Taiwanese Han population. A total of 100 unrelated members of the Taiwanese Han population were used in the study. Alleles that shared the same size but differ in their sequence are described to allow for inter laboratory sharing of data. PCR products amplified from this locus were separated by single-strand conformation polymorphism electrophoresis, the single-stranded DNA bands were excised from the gels, a second amplification performed, and then the PCR products were sequenced. All the alleles differed by either 2 or 4 bp. Sequence variations were observed as deletions or insertions in the repeat units AG (or AA) and AAAG. Additionally, transitions in the flanking regions were recorded. A total of 27 alleles with 71 associated genotypes were recorded if the alleles were defined by size, but 68 alleles with 88 associated genotypes were noted with the alleles were scored on the basis of sequence variation. The power of discrimination (Pd) of this single locus was 0.9874 making the human ACTBP2 a good alternative marker for individual identification and paternity testing.     

Sequence polymorphism of mitochondrial D-loop DNA in the Taiwanese Han population

In order to demonstrate the sequence diversity of mitochondrial D-loop DNA in the Taiwanese Han population, we established a database of 155 unrelated individuals. For each individual, the complete 980bp DNA region from the 5' end of HVI to 3' end of HVII segment was sequenced. In these 155 sequence data, 149 different haplotypes were observed, amongst these haplotypes, 144 were unique, 4 were found in 2 individuals and 1 was found in 3 individuals. When compare to the Anderson sequence, 144 transitions, 24 transversions, 5 insertions and 5 deletions were found. Eight positions exhibited more than one polymorphic sequence, six exhibited two variants while two exhibited three variants. Over the 1024bp that was analysed, pairwise differences between the sequences were 11.35+/-3.53bp. The sequence and nucleotide diversity were 0.9994 and 0.0116, respectively. The probability of two individuals randomly matching over the entire control region was 0.007. The diversity in the mitochondrial D-loop indicates the value of this locus for casework within Taiwan.     

中国4个群体VDR基因2号外显子的SNP基因座遗传多态性

目的 调查中国北方汉族、维吾尔族、藏族和哈萨克族群体维生素D受体基因2号外显子SNP基因座的遗传多态性和群体差别。方法 应用PCR-RFLPs和DNA序列分析技术对271例个体的DNA样品进行分型。结果等位基因ACG的频率最高,分布在0.57～0.72之间。藏族与维吾尔族基因型ACG/ATG的频率超过0.5,汉族基因型ACG/ATG与ACG/ACG的频率均为0.3976;哈萨克族基因型ACG/ACG的频率达到0.5769。DP值与EPP值在4个群体中均超过0.56和0.16。基因型分布符合Hardy-Weinberg平衡,并在4个群体间有一定程度差异。结论 维生素D受体基因2号外显子SNP基因座具有较高的多态性,并具有一定的群体差别。     

南通汉族人群17个Y-STR基因座的遗传多态性

目的分析南通汉族人群的基因表型,评测17个Y-STR基因座在南通人群中的应用价值。方法采集343名南通汉族男性无关个体的外周血样本,通过Chelex-100法提取基因组DNA,用Amp FlSTR Yfiler~(TM)试剂盒进行基因分型,并与12个汉族人群[安徽、江苏、江西、山东、上海、浙江(1)、兰州、南阳、泸州、牡丹江、山西和浙江(2)]以及9个少数民族人群(蒙古族、锡伯族、拉萨藏族、青海藏族、哈萨克族、维吾尔族、满族、台湾排湾族和土家族)进行比较。结果南通汉族群体在17个Y-STR基因座共检出327种单倍型,单倍型多样性(haplotype diversity,HD)值为0.999 7,与其他人群间的R_(st)值范围为-0.000 6~0.263 5。多维尺度图结果显示南通汉族人群与大多数汉族人群之间差异无统计学意义,但明显有别于其他少数民族人群。结论 17个Y-STR基因座在南通汉族人群中的群体多态性高,具有法医学应用价值。     

内蒙古中西部地区汉族、蒙古族ApoB基因遗传多态性

目的研究内蒙古中西部地区汉族、蒙古族ApoB基因遗传多态性。方法选取内蒙古中西部地区汉族、蒙古族无关个体,采用聚合酶链反应一限制性片段长度多态性技术,判断样本中是否含有ApoB基因中的稀有等位基因：XbaI（x＋）和＆DRI（E-）,并计算其基因型频率、等位基因频率及相关的群体遗传学参数。结果内蒙古汉族群体中稀有等位基因XbaI（x＋）和＆0RI（E-）频率分别为2％和4．6％,而在蒙古族群体中没有检测出此两种稀有等位基因。结论ApoB基因XbaI和＆0RI位点的等位基因频率分布在不同种族中差异较大,具有种族鉴定的应用可能。     

广东地区6～18周岁汉族人群牙齿生长发育的比较研究

目的比较广东不同地区汉族人群牙齿生长发育的差异。方法依据牙齿钙化分级标准分别对广州市的1774名(男性899名,女性875名)和深圳市的1730名(男性846名,女性884名)6～18周岁汉族人群的全口曲面断层影像上的下颌牙齿钙化程度进行分级和评分;将评分结果输入SPSS13.0软件进行统计分析。结果牙齿钙化程度与年龄变化呈正相关,两地区同性别间牙齿钙化分级评分值检验结果P>0.05,两地区年龄对应的级别和级别对应的年龄基本一致。结论广东广州市和深圳市两地间青少年牙齿生长发育水平一致。     

中国北方汉族人群FUT6基因3个SNPs遗传多态性

目的对中国北方汉族人群FUT6基因编码区序列特征及等位基因多态性进行调查。方法测序分析30例中国北方汉族人FUT6基因整个编码区序列并鉴定其单倍型,采用复合PCR与复合限制性内切酶结合的RFLP法分析FUT6基因rs778805（C370T）、G855A及rs61147939（C907G）3个SNPs遗传多态性;应用Haploview4.1软件进行相关统计分析。结果 30例测序样本中共检出8个SNPs和6种单倍型,149例中国北方汉族个体C370T、G855A、C907G基因型分布均符合Hardy-Weinberg平衡。杂合度分别为0.544、0.416、0.510;多态信息含量为0.375、0.372、0.367;个人识别能力为0.600、0.651、0.603;非父排除率为0.187、0.186、0.183。PCR-RFLPs检出13种基因型,单倍型变异度为0.646。Haploview4.1软件分析表明3个SNPs处于连锁不平衡状态。结论中国北方汉族人群FUT6基因编码区序列呈现出高度多态性;C370T、G855A、C907G位点多态性分布良好,但处于连锁不平衡状态。     

人类CCK-45C/T遗传多态性及与抑郁症的相关性

目的 调查胆囊收缩素-45C/T(CCK-45C/T)的遗传多态性,探讨其与抑郁症的遗传相关性.方法 采集111例中国健康汉族人和130例抑郁症患者全血样本,利用TaqMan荧光标记探针杂交技术,使用Prism@7900HT型荧光定量PCR仪,对CCK-45 C/T进行基因频率调查,并比较分析健康人群和抑郁症患病人群CCK-45C/T等位基因的分布差异.结果 CCK-45C/T等位基因T的频率在健康群体中为0.369 4,在抑郁症患者群体中为0.496 2,组间比较存在显著性差异(P＜0.05).结论 CCK-45C/T等位基因T的分布在健康和抑郁症患者中差异显著,该基因可能与抑郁症易感相关.     

中国南方两汉族群体的19个STR基因座的特征分析

目的获得南方汉族群体的基因多态性信息,分析16个东亚各人群的族源关系。方法 2018年3~7月收集贵州省和江西省汉族群体中健康且无亲缘关系的720份个体血液样本,其中贵州省407份,江西省313份。使用短串联重复序列(STR)试剂盒扩增检测样本,获得法医学参数;通过文献获取湖北汉族,湖南汉族,四川汉族,重庆汉族,贵州布依族、侗族和苗族,云南白族、彝族、哈尼族和纳西族,广西壮族以及日本和韩国共14个人群的法医学参数,采用Arlequin v3.5遗传软件计算16个东亚人群(本研究的贵州汉族、江西汉族以及文献获得的14个人群)之间的相对遗传距离(Fst),采用SPSS 21.0统计学软件进行多维尺度分析(MDS)和主成分分析(PCA),MEGA6软件绘制系统进化树。结果在贵州汉族人群中,累积个人识别率为1-3.3080×10-23,累积非父排除率为1-3.1792×10-8。在江西汉族人群中,累积个人识别率为1-5.4721×10-23,累积非父排除率为1-1.6544×10-8。少数民族(贵州布依族、贵州侗族、贵州苗族、广西壮族、云南哈尼族和云南纳西族)与汉族群体间存在明显的遗传距离。日本人群与汉族群体的遗传距离最大,韩国人群与汉族群体具有较近的遗传距离。进化树结果表明贵州汉族、江西汉族群体与其他汉族群体聚集在一起,未见明显区别。结论 14个基因座在贵州、广西人群中遗传多态性较好,少数民族与汉族之间、日本与汉族之间的遗传差异明显,而汉族人群内部遗传差异不明显。     

Inferring recent human phylogenies using forensic STR technology

STR loci are characterized by extremely high mutation rates and thus, high levels of length polymorphism both within and among populations. In addition, much of the observed variation is believed to be nearly selectively neutral. Because of these features, STRs are ideal markers for genetic mapping, intra-species phylogenetic reconstructions and forensic analysis. In the present study, we investigate the application of five STR loci (CS1PO, TH01, TPOX, FGA and vWA) routinely used in forensic analysis for delineating the phylogenetic relationships of 10 human populations representing the three major racial groups (African-Caribbean, Croatian from the island of Hvar, East Asian, Han Chinese, Italian, Japanese, Portuguese, UK Caucasian, US Caucasian and Zimbabwe). The resulting tree topology exhibited strong geographic and racial partitioning consistent with that obtained with mtDNA haplotypes, Y-chromosome markers, SNPs, PAIs (polymorphic Alu insertions) as well as classic genetic polymorphisms. These findings suggest that forensic STR loci may be particularly powerful tools and provide the necessary fine resolution for the reconstruction of recent human evolutionary history.     

贵州汉族19个STR基因座多态性及法医学应用

目的调查19个常染色体STR基因座在贵州汉族人群中的等位基因分布,评估其在法医学中的应用价值。方法应用Goldeneye~(TM) DNA身份鉴定系统20A试剂盒,研究贵州520名汉族无关健康个体19个常染色体STR基因座多态性。用310型遗传分析仪进行毛细管电泳,Gene Mapper~ID v3.1进行基因分型。结果 19个常染色体STR基因座的杂合度为0.603 8~0.916 4,个体识别率为0.790 0~0.985 6,非父排除率为0.295 5~0.826 9,多态信息含量为0.553 5~0.908 9,累积个体识别率为1-1.230 0×10~(-22),累积非父排除率为0.999 999 99。贵州汉族和其他五个地域的汉族两两之间等位基因频率比较,仅贵州汉族与山东汉族、辽宁汉族、山西汉族之间存在基因频率差异具有统计学意义。结论 D19S433等19个常染色体STR基因座在贵州汉族人群中具有良好的遗传多态性,对群体遗传学和法医物证学研究有应用价值。     

中国北方汉族与维吾尔族群体8个STR位点的遗传多态性

目的调查中国北方汉族与维吾尔族群体8个STR位点的遗传多态性。方法应用荧光标记引物试剂盒及基因扫描技术检测vWA、TH01、TPOX、CSF1PO、D5S818、D13S317、D7S820、D16S539位点等位基因。结果100例汉族群体共检出62个等位基因,累计非父排除率为0.9975;50例维吾尔族群体共检出52个等位基因,累计非父排除率为0.9973。2群体总个人识别机率均超过0.9999。基因频率分布2群体间存在显著性差异。结论8个STR位点在汉族与维吾尔族群体中具有较高的遗传多态性,频率分布有民族差别。     

Thousands of years of Malay and Chinese population history in Indonesia and its implication on Paternity Index in DNA paternity testing

The existence of the Chinese population in the predominantly Malay population in Indonesia can be traced back thousands of years, and it has been suspected that it played an essential role in the history of the Malay population origin in Maritime South East Asia. With the fact that the Malay-Indonesian population is currently predominant compared to the Chinese population in Indonesia (Chinese-Indonesian), the selection of the origin of the STRs allele frequency panel population becomes an issue in DNA profiling, including in paternity testing. This study analyses the genetic relationship between the Chinese-Indonesian and Malay-Indonesian populations and how this affects the Paternity Index (PI) ??calculation in paternity test cases. The study of the relationship between populations was carried out using neighbour-joining (NJ) tree analysis and multidimensional scaling (MDS) on the allele frequency panel of 19 autosomal STRs loci of Malay-Indonesian (n = 210) and Chinese-Indonesian (n = 78) populations. Four population groups were used as references: Malay-Malaysian, Filipino, Chinese, and Caucasian. An MDS analysis was also performed based on the pairwise F_ST calculation. The combined Paternity Index (CPI) calculation was carried out on 132 paternity cases from the Malay-Indonesian population with inclusive results using a panel of allele frequencies from the six populations. The pairwise F_ST MDS indicates a closer relationship between the Chinese-Indonesian and Malay-Indonesian compared to the Chinese population, which is in line with the CPIs comparison test. The outcome suggests that the alternative use of allele frequency database between Malay-Indonesian and Chinese-Indonesian for CPI calculations is not very influential. These results can also be considered in studying the extent of genetic assimilation between the two populations. In addition, these results support the robustness claim of multivariate analysis to represent phenomena that phylogenetic analyses may not be able to demonstrate, especially for massive panel data.     

24个Y-STR基因座等位基因频率的群体差异分析

目的调查华东地区汉族无关个体24个Y-STR基因座的群体遗传学多态性,比较华东汉族和广东汉族人群间的群体差异性。方法应用GFS 24Y STR荧光检测试剂盒,对华东地区268名汉族无关个体24个Y-STR基因座进行群体遗传学分析。比较华东汉族和广东汉族人群的等位基因频率,进行群体差异分析。结果华东地区268名汉族无关个体24个Y-STR基因座共检出235个等位基因,267种单倍型,GD值范围为0.564 9~0.966 8。华东汉族和广东汉族人群在DYS622、DYS552、DYS443等12个基因座的等位基因间的差异有统计学意义。结论 GFS 24Y STR荧光检测试剂盒中的Y-STR基因座具有良好的遗传多态性,可应用于父系亲缘关系鉴定。     

济南汉族群体5个Y-SNP位点的多态性分析

目的 探讨济南汉族群体5个Y-SNP位点的多态性并评价其在法医学中的应用.方法 采用片段长度差异等位基因特异性PCR(fragment length difference allele specific PCR,FLDAS-PCR)对济南汉族群体共103名男性无关个体5个Y-SNP标记(M89、M9、M122、M134...