微卫星标记OarAE101和MCM38在三个山羊品种中的遗传多态性研究

本文利用两个微卫星标记OarAE101和MCM38对波尔山羊、太行山羊和河北奶山羊的等位基因频率、群体多态信息含量、有效等位基因数和杂合度进行了遗传检测，结果表明：微卫星位点OarAE101和MCM38在三个山羊品种中存在多态性，可以用于山羊遗传多样性的评估；位点OarAE101比位点MCM38变异较大，从不同品种来看，波尔山羊的遗传变异程度最大，而河北奶山羊的遗传变异程度相对较小。     

利用微卫星标记分析兰坪长毛山羊遗传多样性

本研究旨在利用微卫星标记技术分析兰坪长毛山羊群体的遗传多样性,并以波尔山羊为参考群分析该群体与云南省10个地方山羊群体的遗传关系,利用14个微卫星标记对12个山羊群体的基因频率、多态信息含量、有效等位基因数量、杂合子数量和遗传距离等进行计算分析。结果表明:在兰坪长毛山羊的25个样本中共检测出85个等位基因,片段大小在125 bp~265 bp之间,基因频率在0.02~0.82之间。兰坪长毛山羊群体平均PIC为0.618,所有位点均为中高度多态位点群体,具有丰富遗传多样性。Structure软件分析结果表明兰坪长毛山羊具有较为独立的群体遗传特征,Nei氏遗传距离构建的聚类图说明兰坪长毛山羊与云南省10个地方山羊群体及参考群波尔山羊群体的亲缘关系相对较远。研究结果将为云南省本地山羊资源的保护提供遗传信息基础。     

十五个微卫星标记在超细型细毛羊上的遗传多样性的研究

本研究选取了绵羊1号和3号染色体上的十五个微卫星位点,对超细型细毛羊的六个父系半同胞的232个后代的遗传多样性进行了检测。计算了各位点的等位基因频率(P)、杂合度(H)、多态信息含量(PIC)和有效等位基因数(N)。结果表明:十五个微卫星位点中有七个未检测到多态,另外八个在超细型细毛羊中表现出较好的多态性。在这八个多态性标记中,微卫星MAF64位点的多态信息含量最高(PIC=0.8399),微卫星BL-4位点的多态信息含量最低(PIC=0.4201)。多态性标记在群体中的平均等位基因数为5.6个,平均多态信息含量PIC=0.64,平均杂合度H=0.67,平均有效等位基因数N=3.7。经分析,超细型细毛羊群体中的遗传杂合度较高,表明其遗传背景复杂,遗传多样性较为丰富。同时这八个多态性微卫星位点也可用于超细型细毛羊羊毛各性状的进一步研究。     

利用微卫星标记分析新疆天山马鹿3个群体的遗传多样性

本文利用5个微卫星标记对新疆天山马鹿遗传多样性进行了检测分析。统计了天山马鹿三个群体的等位基因组成、平均有效等位基因数(E)和平均基因纯合率(Rh),利用等位基因频率计算出各群体的平均遗传杂合度(h)、多态信息含量(PIC)。结果表明5个微卫星位点在哈密1、04团和151团天山马鹿三个群体的平均多态信息含量分别为0.5462、0.5477、0.5895,除微卫星位点BM5004外均为高度多态,可作为有效的遗传标记用于天山马鹿遗传多样性分析;天山马鹿三个群体总平均PIC、h、Rh和E分别为:0.5611、0.5902、0.5826和2.9。分析认为天山马鹿遗传变异度相对较高,遗传多样性较为丰富。     

牛基因组研究进展（下）

３．５牛基因组遗传连锁图最近版本牛基因组遗传图报告的标记位点为１２５０个，其中有１２３６个多态ＤＮＡ标记，１４个红细胞抗体基因（ＥＡ）和血清蛋白多态。连锁图总长度２９９０ｃＭ，常染色体区内标记间平均间距为２．５ｃＭ。这个牛的第二代遗传连锁图为通过基因组扫描检测ＱＴＬ提供了有效的标记密度（Ｋａｐｐｅｓ等，１９９７）。ＣＳＩＲＯ的中等密度牛基因组遗传连锁图中ＤＮＡ多态标记为７４６个，其中６０１个微卫星标记，３１个连锁群（２８个常染色体，２个性染色体），连锁图总长度分别为：常染色体加平均性别３５３２ｃ…     

8种微卫星DNA标记在草原红牛杂交群体中多态性的研究

选用由利木赞与草原红牛杂交后代组成的试验牛群体共计24头,经过牛血液基因组DNA的提取、8对微卫星引物的PCR扩增、扩增产物的聚丙烯酰胺电泳分型、UVIRAND计算机凝胶成像分析系统分析各位点等位基因及全部个体的标记基因型、PPAP3、0软件计算基因频率、多态信息含量(PIC)和杂合度等步骤从分子水平上分析了在8个位点的遗传多态性。结果表明,BM2113、ETH225、IDVGA2、IDVGA46、IDVGA44、BM1824、IDVGA55和TGLA44这8个位点的等位基因数分别为4、5、4…454,4和6,多态信息含量(PIC)分别为0、6432、0、5943、0．6593、0、5794、0、7259、0、6121、0．6120和0、6204,杂合度为0．7034,均属于高度多态性位点。用于寻找与生产性能相关的遗传标记的研究是较理想的。     

青海蒙族群体8个STR位点遗传多态性研究

目的：研究青海蒙族人群第21号染色体D21S1432、D21S1435、D21S1270、D21S1440、D21S1446、GATA24H09、ATA42C09、GATA129D11等8个STR位点的遗传多态性。方法：运用PCR扩增、6%变性聚丙烯酰胺凝胶电泳结合银染技术对30位无关个体蒙族人群进行多态性研究。结果：8个位点分别检测出6、5、7、5、6、5、5、5个等位基因片段,共140个基因型,频率分布在0.025 09~0.046 43之间,多态性分布符合Hardy-weinberg平衡定律。8个STR位点多态信息量（PolymorpHism information content,PIC）分别为0.699 4、0.703 9、0.759 2、0.638 0、0.672 0、0.685 0、0.674 0、0.691 9,累积多态信息量为0.688 9。期望杂合度（heterozygosity,HET）分别为0.740 2、0.748 3、0.790 4、0.682 2、0.741 5、0.7271、0.742 5、0.725 5,累积杂合度为0.758 9。累积个体识别率（discrimination power,DP）为0.989 6,累积排除率（probabilities of paternity exclusion,PE）为0.999 6。结论：青海蒙族8个位点STR基因座的多态性数据显示其基因分布特征具有特异性。     

基于基因组SNP信息分析新疆夏洛莱牛群体的遗传结构和遗传背景初报

近50年来，引入的夏洛莱牛在塔额盆地已初步形成遗传性能稳定、产肉性能好的新类群。然而，在夏洛莱牛的杂交改良和选育过程中，缺乏系统的育种档案资料，存在着群体遗传背景不清、血缘关系不明等问题。本研究利用基因组高通量检测技术，分析新疆夏洛莱杂交新类群核心群中的全基因组水平SNPs变化，样本SNP数据平均检出率（Call Rate值）大于90%(99.40%)，检测后分析群体中有效群体含量（Ne）、群体的多态性标记比例（Pn），群体的期望杂合度（He）和观察杂合度（Ho）等数据，得出现有新疆夏洛莱核心群体的纯度较好，有效群体含量为28.69，个体间的亲缘关系呈中等程度、整个群体分为26个家系，个体基于ROH的近交系数值是0.030。结论：基因组分析运用高通量测序，通过关联分析，对新疆夏洛莱肉牛群体明确系谱信息，开展全基因组选育，指导组建核心育种群，为群体的遗传背景和血缘关系提供科学依据，对提高今后新疆夏洛莱群体选种的正确性,缩短世代间隔,建立现代新型良种繁育体系有重要的意义。     

云南不同地区绵羊血液蛋白多态性研究

本研究采用平板式淀粉胶蛋白电泳技术来自德钦县、巧家县、腾冲县的绵羊进行了34个同功酶及血液蛋白的研究，共检测36个遗传座位，其中有8个座位显示多态，德钦绵羊多态百分率P=0.1944，平均杂合度H=0.0647，平均等位基因数A=1.2222；昭通绵羊P=0.2222，H=0.0651;A=1.2222；腾冲绵羊P=0.1667,H=0.0608;A=1.1667。表明云南不同地区绵羊的在蛋白水平上遗传多样性较为丰富。运用Phylip3.5软件包中的“GENETDIST”计算标准遗传距离，再结合以往研究的数据，运用该软件包中的“NEIGHBOR”和“UPGMA”法进行聚类分析，结果表明，云南绵羊起源于同一共同祖先，云南棉羊与印度绵羊、尼泊尔绵羊关系较近，而与西藏绵羊关系较远。     

不同居群白芍的DNA随机扩增多态性研究

目的分析6个不同居群白芍的遗传多样性,为白芍的种质鉴定及遗传多样性分析提供依据。方法运用随机扩增多态性DNA（RAPD）技术,对浙江磐安、四川中江、安徽亳州、上海崇明、江苏宿迁和山东荷泽居群白芍的基因组DNA进行随机扩增,利用NTsys2.10e软件计算遗传相似性,运用UPGMA法进行聚类分析并构建树状图。结果共筛选了70个随机引物,从中挑选出8条多态性强、重复性好的引物,共检测出215个位点,多态性位点137个,多态位点比率为63.7%,UPGMA聚类可以将不同来源的白芍很好地区分开。结论不同产地间的白芍存在丰富的遗传多样性,RAPD分子标记方法可以用来鉴定不同产地的白芍。     

羊微卫星标记的研究进展

微卫星DNA在染色体上随机分布．是十分有效的遗传标记。目前在羊中应用的微卫星位点除了少数是直接从DNA文库中筛选的以外．大部分都是借用牛的微卫星住点。这些位点已被广泛的应用于父权的鉴定、遗传多样性和种群结构的分析、QTL定位、遗传图谱的构建等方面的研究。然而微卫DNA的数量目前还远不能满足研究的需要。将来要分离更多的微卫星住点．构建微卫星住点的遗传和物理图谱。这样微卫星DNA才能在羊的研究中发挥更大的作用。     

川东白山羊小型个体与波尔山羊和南江黄羊杂交效果初探

试验研究了以波尔山羊和南江黄羊改良川东白山羊小型个体的效果，结果表明，南江黄羊和波尔山羊与本地山羊杂交均能提高本地川东白山羊的增重性能，相比之下，波尔山羊与本地山羊杂交改良的速度更为明显，其杂交后代初生重、二月龄、六月龄和十月龄分别比南江黄羊的杂交后代提高了9.00%,26.68%，58.45%和42.58%，其屠宰率和净肉率分别高出3.75%和5.15%，这说明以波尔山羊改良川东白山羊小型个体生产性能效果最佳。     

Y-STR diversity in the Himalayas

Linguistic and ethnic diversity throughout the Himalayas suggests that this mountain range played an important role in shaping the genetic landscapes of the region. Previous Y-chromosome work revealed that the Himalayas acted as a biased bidirectional barrier to gene flow across the cordillera. In the present study, 17 Y-chromosomal short tandem repeat (Y-STR) loci included in the AmpFlSTR? Yfiler kit were analyzed in 344 unrelated males from three Nepalese populations (Tamang, Newar, and Kathmandu) and a general collection from Tibet. The latter displays the highest haplotype diversity (0.9990) followed by Kathmandu (0.9977), Newar (0.9570), and Tamang (0.9545). The overall haplotype diversity for the Himalayan populations at 17 Y-STR loci was 0.9973, and the corresponding values for the extended (11 loci) and minimal (nine loci) haplotypes were 0.9955 and 0.9942, respectively. No Y-STR profiles are shared across the four Himalayan collections at the 17-, 11-, and nine-locus resolutions considered, indicating a lack of recent gene flow among them. Phylogenetic analyses support our previous findings that Kathmandu, and to some extent Newar, received significant genetic influence from India while Tamang and Tibet exhibit limited or no gene flow from the subcontinent. A median-joining network of haplogroup O3a3c-M134 based on 15 Y-STR loci from our four Himalayan populations suggests either a male founder effect in Tamang, possibly from Tibet, or a recent bottleneck following their arrival south of the Himalayas from Tibet leading to their highly reduced Y single-nucleotide polymorphism and Y-STR diversity. The genetic uniqueness of the four Himalayan populations examined in this study merits the creation of separate databases for individual identification, parentage analysis, and population genetic studies.     

Genetic polymorphism studies on 22 autosomal STR loci of the PowerPlex Fusion System in Bangladeshi population

Genetic polymorphism of 22 autosomal STR loci included in PowerPlex® Fusion System (D3S1358, D1S1656, D2S441, D10S1248, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, FGA and D22S1045) was studied in 188 unrelated Bangladeshi Bengali individuals. Allele frequencies and forensic efficiency parameters such as, the power of discrimination (PD), observed and expected heterozygosity (Ho & He), polymorphism information content (PIC), probability of match (PM), power of exclusion (PE) and typical paternity index was calculated for the loci. The combined PM and PE for all 22 STR loci were calculated to be 5.29 × 10⁻²⁷ and 0.99999999945 respectively. The dataset indicated the usefulness of these loci in personal identification, parentage testing and complex kinship analysis in Bangladeshi population. A neighbor-joining tree was constructed based on pair-wise Nei’s genetic distance by comparing allele frequency data for the 22 loci with six other populations. The analysis showed that Bangladeshi population lies closer to a clade consisting Japan, the Philippines and East Timot populations.     

Development of a five ChX STRs loci typing system

We investigated the polymorphism of five X-chromosomal short tandem repeat markers (ChrX STRs) loci (DXS7132, DXS981, DXS6803, DXS6809, and DXS6789) and their value for forensic applications. A fluorescent multiplex polymerase chain reaction (PCR) for amplifying five ChrX STRs loci in the same PCR reaction was set up. A total of 827 unrelated individuals of the Han nationality in China were tested. The results show that the five loci in the multiplex system provide high polymorphism information for forensic identification and paternity testing, particularly for difficult paternity-deficient cases.     

Allele frequency distribution at 15 autosomal STR loci in Panggi, Komkar and Padam sub tribes of Adi, a Tibeto-Burman speaking population of Arunachal Pradesh, India

Fifteen autosomal STR loci were analyzed in 223 healthy individuals belonging to three remote, isolated Tibeto-Burman speaking sub tribes namely, Panggi, Komkar and Padam of Adi tribe of Arunachal Pradesh, India. The analyzed markers exhibited a high degree of polymorphism in the studied populations. Statistical parameters of forensic interest; observed heterozygosity, probability of homozygosity, exact test, likelihood ratio test, power of discrimination, power of exclusion, match probability and typical paternity index were determined for all loci. The average heterozygosity values were found to be low in the three populations (Panggi: 0.7747; Komkar: 0.7742 and Padam: 0.7663). The combined power of discrimination and power of exclusion were 0.9999 in the studied populations thereby revealing the high forensic significance of the chosen markers. The study indicates the utility of the tested microsatellite markers in forensic human identification, paternity testing and human population genetic studies.     

Using forensic microsatellites to decipher the genetic structure of linguistic and geographic isolates: A survey in the eastern Italian Alps

The study of geographically and/or linguistically isolated populations could represent a potential area of interaction between population and forensic genetics. These investigations may be useful to evaluate the suitability of loci which have been selected using forensic criteria for bio-anthropological studies. At the same time, they give us an opportunity to evaluate the efficiency of forensic tools for parentage testing in groups with peculiar allele frequency profiles. Within the frame of a long-term project concerning Italian linguistic isolates, we studied 15 microsatellite loci (Identifiler kit) comprising the CODIS panel in 11 populations from the north-eastern Italian Alps (Veneto, Trentino and Friuli Venezia Giulia regions). All our analyses of inter-population differentiation highlight the genetic distinctiveness of most Alpine populations comparing them either to each other or with large and non-isolated Italian populations. Interestingly, we brought to light some aspects of population genetic structure which cannot be detected using unilinear polymorphisms. In fact, the analysis of genotypic disequilibrium between loci detected signals of population substructure when all the individuals of Alpine populations are pooled in a single group. Furthermore, despite the relatively low number of loci analyzed, genetic differentiation among Alpine populations was detected at individual level using a Bayesian method to cluster multilocus genotypes. Among the various populations studied, the four linguistic minorities (Fassa Valley, Luserna, Sappada and Sauris) showed the most pronounced diversity and signatures of a peculiar genetic ancestry. Finally, we show that database replacement may affect estimates of probability of paternity even when the local database is replaced by another based on populations which share a common genetic background but which differ in their demographic history. These findings point to the importance of considering the demographic and cultural profile of populations in forensic applications, even in a context of substantial genetic homogeneity such as that of European populations.     

Forensic characteristics and genetic analysis of both 27 Y-STRs and 143 Y-SNPs in Eastern Han Chinese population

Y-chromosome short tandem repeat (Y-STR) and Y-chromosome single nucleotide polymorphism (Y-SNP) frequency distributions provide resources for assessment of male population stratification among world-wide populations. Currently, the Y-STR Haplotype Reference Database (YHRD) contains numerous Y-chromosome haplotype profiles from various populations and countries around the world. However, for many of the recently discovered and already phylogenetically mapped Y-SNPs, the population data are scarce. Herein, the typing of 27 Y-STRs (Yfiler Plus) and 143 Y-SNPs (self-designed Y-SNP panel) was performed on 1269 unrelated males from 11 Han Chinese populations. Haplogroup O-M175 was the most predominant haplogroup in our Han Chinese data, ranging from 67.34% (Henan Han) to 93.16% (Guangdong Han). The highest haplogroup diversity (0.967056) was observed in Heilongjiang Han, with a discrimination capacity (DC) value of 0.3723. The number of alleles at single-copy loci varied from 2 for DYS391 (Guangdong Han) to 16 for DYS518 (Henan Han). For the majority of the populations (8/11), both the haplotype diversity and DC values are 1.0000. Furthermore, genetic differentiations were observed between Northern and Southern Han Chinese. These genetic differences were mainly reflected in haplogroup distribution and frequency, and they were confirmed by statistical analysis.