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.     

VLDL双向选择肉鸡群SSR指纹分析

对初步进行VLDL双向选择的三个世代高、低脂群肉鸡进行SSR指纹分析,评定各基因座基因频率的变化,进而判断SSR标记与肉鸡肥度性状VLDL的相关关系,为低脂肉鸡的早期选育奠定基础。5个微卫星引物一个未扩增出产物,其余4个引物扩增出14个微卫星位点。各位点在高、低脂系中的基因频率经卡方检验,一世代有一个基因座的基因频率差异显著（P<0.05）;二世代两个基因座差异显著;三世代共检测到4个基因座差异显著。 Abstract:SSR fingerprints were analyzed in three generations of fat line (FL) and lean line (LL) of broiler chickens.Changes in gene frequencies of every locus were evaluated.Thus the relationship between SSR markers and VLDL (a trait representing fat mass of broiler),which is the basis for early selection of LL broiler,was examined.Fourteen microsatellite locus were successfully amplified with 4 of 5 primers used.The results of χ2 test for the gene frequencies of every locus show that one locus was significantly different in generation 1(P<0.05),two in generation 2 and 4 in generation 3.     

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.     

饲养东北虎的微卫星变异研究

东北虎是世界上濒危动物之一,具有极其重要的研究价值和保护意义。该研究利用10个在东北虎基因组中表现多态性的微卫星基因座（Fca005, Fca075, Fca094, Fca152, Fca161, Fca294, Pti002, Pti003, Pti007和Pti010）对113只饲养东北虎进行了遗传多样性检测。用非变性聚丙烯酰胺凝胶电泳检测微卫星的PCR扩增产物,计算了10个微卫星基因座的等位基因频率、基因杂合度、多态信息含量和有效等位基因数。在113只东北虎样品中,10个基因座的等位基因数为3～6个,其中Fca152最多;等位基因频率处于0.009～0.767之间。基因杂合度值在0.385～0.707间,平均为0.616,多态信息含量值在0.353～0.658间,平均为0.558,有效等位基因数处于1.629～3.409之间,平均为2.784,表明所选用的10个微卫星基因座在研究样品中均为中高度多态性基因座,具有比较明显的遗传变异。113只样品中包括75只毛发样品,23只血液样品和15只组织样品,不同样品的结果比较表明,毛发、血液和组织样品均可以得到清晰的扩增结果。所以,微卫星基因座与非损伤性DNA分析方法可以成功地应用于濒危珍稀动物的遗传多样性研究。 Abstract:. The tiger is one of the most threatened wildlife species since the abundance and distribution of tiger have decreased dramatically in the last century. The wild Amur tiger (Panthera tigris altaica) only distributed in northeast China, the far east area of Russia and the north Korea and its size of wild population is about 450 in the world and 20 in China. Several hundred captive populations of Amur tigers are the main source to protect gene library of tiger and the source of recovering the wild populations. The Breeding Center for Felidae at Hengdaohezi and Ha’erbin Tiger Park in Heilongjiang Province is the biggest captive breeding base in China. How to make clear the genetic pedigree and establish reasonable breeding system is the urgent issues. So we use the microsatellite DNA markers and non-invasive technology to research on the genetic diversity of captive Amur tiger in this study. Ten microsatellite loci (Fca005, Fca075, Fca094, Fca152, Fca161, Fca294, Pti002, Pti003, Pti007 and Pti010), highly variable nuclear markers, were studied their genetic diversity in 113 captive Amur tigers. The PCR amplified products of microsatellite loci were detected by non-denatured polyacry lamide gel electrophoresis. Allele numbers, allelic frequency, gene heterozygosity(He), polymorphism information content(PIC) and effective number of allele(Ne) were calculated. 41 alleles were found and their size were ranged from 110bp to 250bp in ten microsatellite loci, Fca152 had 6 alleles, Fca075, Fca094 and Fca294 had 5 alleles, Fca005 and Pti002 had 4 alleles and the others had 3 alleles in all tiger samples, respectively. The allelic frequencies were from 0.009 to 0.767; The He ranged from 0.385 to 0.707, and Fca294 and Pti010 locus had the highest and lowest value; the PIC were from 0.353 to 0.658, Fca294 and Pti010 locus had the highest and lowest value; and Ne were from 1.626 to 3.409, Fca294 and Pti010 locus had the highest and lowest value, which showed the ten microsatellie loci had high or medium polymorphism in these Amur tigers and had high genetic diversity. At the same time, we only found even bases variability which showed the even bases repeat sequence (CA/GT) maybe the basic unit for length variability of microsatellite in all loci. In this study, the samples were made up of 75 hair specimens, 23 blood specimens and 15 tissue specimens, we obtained the genome DNA from hairs using the non-invasive DNA technology and demonstrated that DNA derived from hair samples is as good as that obtained from blood samples for the analaysis of microsatellite polymorphism. These results imply that microsatellite DNA markers and non-invasive DNA technology can help study the genetic diversity of Amur tiger. This method could be used in the captive management of other endangered species.     

猪1号染色体微卫星多态性研究及遗传连锁图谱的构建

微卫星具有多态性高、保守性好等优点。本研究选取以20cM左右的间距均匀分布于1号染色体的8个多态微卫星基因座构建猪1号染色体的遗传连锁图谱,为进一步进行重要经济性状基因座的定位打下基础。试验结果表明,8个基因座等位基因数目2~5个,各个基因座等位基因频率在0.015~0.75之间,杂合度为0.39705~0.67675,多态信息含量为0.32925~0.59316。构建的资源家系遗传连锁图谱总长181.5cM,与USDA结果基本一致,可进一步用于猪数量性状基因座定位的研究。 The Microsatellite Polymorphism Research on Porcine Chromosome 1 and the Construction of Its Genetic Map QU Yan-chun,DENG Chang-yan,XIONG Yuan-zhu,SU Yu-hong,ZHENG Rong,LIU Gui-lan The Key Laboratory of Pig Breeding and Genetics,The Ministry of Agriculture, Huazhong Agricultural University,Wuhan 430070,China Abstract:As a molecular marker,microsatellite has many advantages such as high polymorphism and good conservativeness in animal genetic research.The study chose 8 microsatellite markers that evenly distributed on chromosome 1 with a distance about 20 cM to build the genetic map of porcine chromosome 1.The results of our experiment are as follows:the number of alleles for 8 markers is 2 to 5,their gene frequency is from 0.015 to 0.75,the heterozygosity is from 0.39705 to 0.67675 and the polymorphic information content is from 0.32925 to 0.59316.The map we built is basically in consistent with the result of USDA and can be used in searching quantitative traits loci in pigs. Key words：porcine; microsatellite; heterozygosity; polymorphic information content; genetic map     

中国南方汉族群体MPSI型Kpn I酶切位点的遗传多态性

为研究中国汉族群体IDUA 基因Kpn I 酶切位点的遗传多态性以及该位点等位基因片段传递的规律, 采用PCR-RFLP技术, 对162例无血缘关系的健康中国汉人的324条 染色体进行检测,另又对5个家系16位成员进行同样的检测,然后用χ2检验进行统计学处理。结果表明,等位基因A1 频率为0.17,等位基因A2 频率为0.83,杂合率为29%;A1 、A2 的传递规律与理论上预计的完全符合。认为中国汉族群体IDUA 基因 Kpn I 酶切位点也具有遗传多态性, 并且与国外报道的无显著性差异;A1、A2 在世代中的传递完全符合孟德尔遗传规律。 Abstract:To investigate the genetic polymorphism of the Kpn I site in the α-L-iduronidase(IDUA) gene from a Han population in southern China and to study the mode of transmission of alleles, PCR-RFLP was used to analyze 324 chromosomes from 162 Chinese unrelated healthy Han individuals, and the analysis of the genotypes of 16 members in five families. To compare the frequencies and heterzygosity between Chinese Han population and Caucasians in Western by using χ2test. The frequency of allele 1 (450bp) was 0.17,allele 2 (390 plus 60 bp) 0.83, the heterozygosity was 29%.The genotypes of each member of all families detected was completely agreement with the theorical assessment. The locus of Kpn I in the IDUAgene from Han population has polymorphism. There is no significant difference between Chinese Han population and Caucasians in Western countries. The transmission of alleles was agreement with the Mendelian genetic law.     

云南人群系统性红斑狼疮与TNF微卫星基因座关系的研究

位于MHC内的肿瘤坏死因子（tomornecrosisfactor,TNF）基因区域有5个微卫星基因座a、b、c、d和e,本研究调查了中国云南汉族系统性红斑狼疮（systemiclupuserythematosus,SLE）与这几个微卫星基因座多态性的关系。本文用荧光标记引物和半自动基因扫描方法对云南地区97例SLE患者及79例健康对照者的这5个微卫星基因座进行了基因分型,结果发现,SLE患者的TNFa1（P=0.0206）,c2(P=0.0000)等位基因频率较正常人显著增高,而TNFa2(P=0.0163),c3(P=0.0065),c4(P=0.0012),d6(P=0.0448)等位基因频率则是正常对照较SLE患者高。同时我们还发现在这5个微卫星基因座中,与白种人比较中国人出现了尚未发现的新等位基因。 Abstract：We have investigated TNF microsatellite polymorphism in SLE.A total of 97 Chinese Han SLE patients and 79 matched Chinese Han controls were studied in this study, TNF microsatellites a,b,c,d and e were typed using fluorescent labeled automated genescanning and genotyping.TNFa1（P=0.0206）,c2 (P=0.0000) allele frequencies were significantly increased in the SLE group comparing with controls,and TNF a2 (P=0.0163) c3(P=0.0065),c4(P=0.0012),d6(P=0.0448) allele frequencies were significantly increased in controls.Meanwhile,we found some new alleles in Chinese which are different form those in Caucasoids.     

中国广东汉族人群核苷酸修复基因hMTH1 遗传多态性研究

为研究中国南方汉族人群核苷酸修复基因hMTH1遗传多态性,应用聚合酶链反应-单链构象多态性技术检测172名健康人外周血白细胞hMTH1基因启动子及全部5个外显子多态性,并进行DNA测序。结果发现hMTH1基因启动子及外显子1序列保守,未见突变;外显子2第73位碱基存在T→C杂合型突变,基因型TT和TC频率分别为93.02%、6.98%,等位基因T和C频率分别为96.51%、3.49％;外显子3第45位遗传密码存在T→C杂合型突变,基因型TT和TC频率分别为95.35%、4.65%,等位基因T和C频率分别为97.67%、2.33%,该多态性为首次发现;外显子4第83位遗传密码存在G→A杂合型突变,基因型GG和GA频率分别为89.53%、10.47%,等位基因G和A频率分别为94.77%、5.23％;外显子5第119位氨基酸遗传密码存在C→T杂合型突变,基因型CC和CT频率分别为95.93%、4.07%,等位基因C和T频率分别为97.97%、2.03％。Abstract: In order to study the genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population, the polymorphisms of the gene’s promoter and its five exons among peripheral blood lymphocytes of 172 Chinese Han people were analyzed with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The sequences of the promoter and exon 1 of hMTH1 gene were conserved. A T to C polymorphism was detected at the 73th base in exon2. The genotype frequencies of TT and TC were 93.02% and 6.98%, respectively. The allelic frequencies of T and C were 96.51% and 3.49％, respectively. A T to C polymorphism was detected at codon 45 in exon3, which was first reported. The genotype frequencies of TT and TC were 95.35% and 4.65%, respectively. The allelic frequencies of T and C were 97.67% and 2.33%, respectively. A G to A polymorphism was detected at codon 83 in exon4. The genotype frequencies of GG and GA were 89.53% and 10.47%, respectively. The allelic frequencies of G and A were 94.77% and 5.23％, respectively. A C to T polymorphism was detected at codon 119 in exon5. The genotype frequencies of CC and CT were 95.93% and 4.07%, respectively. The allelic frequencies of C and T were 97.97% and 2.03％, respectively.     

犬MC1R基因T105A基因座多态性及 与毛色性状相关性的研究The

为了检测犬MC1R基因T105A基因座的多态性,并分析该多态性与犬毛色表型的相关性,抽取111只外科手术学实验用杂种犬血液并提取DNA,记录毛色表型。采用PCR-RFLP技术,对MC1R基因T105A基因座进行基因多态性分析,并对该基因座DNA进行克隆测序;用二元变量相关分析的统计学方法分析基因座多态性与毛色性状之间的相关性。经PCR-RFLP分析结果表明,T105A基因座序列具有多态性,表现为A、B二个等位基因和AA、AB及BB 3种基因型。A、B等位基因频率分别为72.97%和27.03%,基因杂合度（H）为0.39。基因型AA频率为55.86%,BB为9.91%,AB为34.23%。对T105A多态性片段DNA克隆测序后发现,MC1R基因在编码第105位氨基酸的密码子第一个碱基存在由G到A的单碱基突变,该突变导致第105位氨基酸发生由丙氨酸向苏氨酸的改变。统计分析结果表明MC1R基因T105A基因座的多态性与毛色性状不存在显著的相关性,这可能是由于外科手术学实验用犬是杂种犬,其遗传背景不同所致,尚须在纯种犬群体中进一步研究MC1R基因对毛色的影响。 Abstract: In order to detect the polymorphism of T105A in MC1R gene in dogs and to analyze the relationship between the genetic polymorphisms and phenotypes of dog coat color, the blood samples of 111 cross-breed dogs were taken and their genomic DNAs were extracted. The phenotypes of dog coat color were recorded. The T105A locus of MC1R gene in the canine was detected through the technology of PCR-RFLP. Furthermore, the polymorphic fragments at T105A were sequenced. The relationships between the polymorphism of T105A and coat color trait were analyzed by the statistical methods of bivarate correlation analysis. By the method of PCR-RFLP, the T105A polymorphism was found with two alleles A and B and three genotypes AA, AB and BB. The frequencies of two alleles were 72.97% and 27.03%, respectively. The heterozygosity of T105A locus was 0.39. The frequencies of three genotypes were 55.86%, 34.23% and 9.91%, respectively. According to the results of sequencing, one base change from G to A at the position 105 was found at T105A locus and it altered amino acid at the position 105 from alanine to threonine. According to the statistical analysis, no significant association between the polymorphism of MC1R gene and the coat color was found and the result may be due to the differences of genetic background. Further research on MC1R gene should be done in pure breed dogs.     

MICA/B基因多态性与血吸虫病相关性研究

本研究采用PCR-SSP与PCR-SBT方法对正常健康对照组与血吸虫病感染组、血吸虫病性重度肝纤维化病人组和轻度肝纤维化病人组中MICA/B基因进行分型,并比较各组基因的多态性。结果在血吸虫感染组与健康对照组中共发现13种MICA等位基因和5种MICA-STR基因型,MICA*012:01(11.58%vs 5.83%)、MI-CA*017(2.11%vs 0.00%)及MICA*027(3.16%vs 0.97%)在对照人群组较血吸虫病人组中分布频率较高,但Pc值显示没有统计学意义(Pc>0.05)。MICA-STR型别分析显示,MICA-STR与血吸虫病易感没有相关性,但MICA*A5基因型的分布频率在重度肝纤维化组显著高于轻度肝纤维化组(45.10%vs 26.92%,Pc<0.05)。在血吸虫病人组中一共检出10种MICB等位基因。在本研究人群中未发现与日本血吸虫感染显著相关的MICB等位基因。同时MICB等位基因多态性在重度纤维化组、轻度纤维化组、以及正常对照组相互之间均无显著的相关性。研究显示在血吸虫病人组中,MICA和MICB具有连锁不平衡,其中单倍型MICB*008-MICA*002:01和MICB*014-MICA*045在血吸虫病人组中显示具有显著的连锁不平衡。     

藏鸡群体遗传多样性研究

藏鸡的体型外貌和生活习性与红色原鸡非常相似,是具有自己独特群体遗传特性的高原地方鸡种。为了有效保护并合理利用这一遗传资源,我们采用多重PCR与半自动荧光标记微卫星聚丙烯酰胺凝胶电泳相结合的方法检测了20个微卫星基因座的多态性,并随机抽取藏鸡群体中部分个体进行个体体形特征与生产性能的统计。结果表明藏鸡群体的20个微卫星基因座的多态等位基因数为4~10个,平均值为7.25个/基因座,多态信息含量（CPI）和杂合度（H）平均值分别为0.67、0.74。大染色体较小染色体的微卫星标记多态性程度要高。藏鸡群体的微卫星基因座多态性丰富,也解释了生产性能不均,外貌表现迥异的群体遗传特性。 Abstract: Morphological traits and living habit of Tibetan chicken, which is an aboriginal chicken breed on plateau with its own characteristic populational genetic features, are in great common with the Red Jungle Fowl, the assumed ancestry of domestic chicken. To fully exploit this chicken resource, Multiplex PCR with semi-automated polyacrilamide gel electrophoresis (PAGE) using fluorescently labeled microsatellite primers was used to detect the polymorphism at 20 microsatellite loci. At the same time, we randomly test the individual morphology and performance. It showed that numbers of polymorphic alleles were 4-10, with mean value 7.25 per locus. Polymorphism Information Content (CPI) and Heterozygosity (H) had mean values 0.67 and 0.74, respectively. Macrochromosomes had relatively higher polymorphism than microchromosomes(P>0.05). In all, high polymorphisms at microsatellite loci related to the uneven production performance and morphological discrepancy of population genetic characteristics in Tibetan chicken.     

Isolation and Characterization of Nine Microsatellite Markers for Red-backed Ratsnake,Elaphe rufodorsata

The red-backed ratsnake(Elaphe rufodorsata) is widely distributed in East Asia, especially China. This species is a common snake in plain river network region. In the past several decades, E. rufodorsata has dramatically declined due to the effect of human activities and over hunting for traditional Chinese medicine. We developed nine species-specific microsatellite loci in 190 individuals collected from Huzhou, Zhejiang province in China. These markers revealed a high degree of genetic diversity(13–41 alleles per locus) and heterozygosity(H O ranged from 0.266 to 0.941, and H E ranged from 0.851 to 0.937). No locus exhibited significant deviations from Hardy–Weinberg equilibrium. There was no evidence of linkage disequilibrium among pairs of loci. These microsatellite markers were described in our study will be valuable tools for the long term management and population-level studies(e.g. the population structure, genetic diversity and variation, individual paternity and evolutionary history) of the species.     

METHODS FOR DETECTION AND ESTIMATION OF LINKAGE BETWEEN A MARKER LOCUS AND QUANTITATIVE TRAIT LOCI Ⅰ. USING F_2 FAMILY SUBPOPULATION

Several methods heve been proposed over the years to detect linkage between a marker gene and a quantitative trait locus (QTL). Use of isozymes and restriction fragment length polymorphisms (RFLPs) as genetic markers has encouraged the development of new methods to detect linkage. In the paper authors present three methods to detect linkage and two methods to measure recombination frequency (r). The three methods that detect linkage are fit for the test of one or several QTLs of quantitative trait considered as long as the net gene effect vaIue of all loci belonging to a linkage cluster is greater significantly than zero, irrespective of their linkage relationship among the several QTLs.     

兴安盟3个民族10对性状的基因频率

调查了内蒙古兴安盟汉、蒙古、朝鲜族的10对遗传性状,并计算了各民族每一性状的基因频率,同时也进行了民族间基因频率的比较。比较结果显示:汉族－朝鲜族间差异较大,蒙古族－朝鲜族间次之,汉族－蒙古族间差异较小。 Abstract：Ten genetic traits were investigated in Han,Mongol and Chaoxian nationalities in Xing'an League of Inner Mongolia.The gene frequency of the traits was calculated in each nationality and compared between the nationalities.The result indicated that the difference of gene frequency between Han and Chaoxian nationalities was significant,followed by between Mongol and Chaoxian ones,whileit was relatively insignificant between Han and Mongol ones.     

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.     

云南红豆杉天然群体内同工酶遗传变异的研究

采用水平淀粉凝胶电泳技术,对分布于金沙江流域的云南红豆杉天然群体的10种酶系统同工酶的遗传变异进行了研究。在谱带遗传分析的基础上确定了15个酶基因座及其等位基因。其中有14个酶基因座属多态,只有一个单态基因座（ME－3）。14个多态基因座中,4个基因座遗传变异小,对该天然群体的遗传变异贡献不大,其余10个基因座遗传变异丰富,对该天然群体的遗传变异贡献大。该天然群体具有明显丰富的遗传变异性,多态基因座比率P=0.933,等位基因平均数A=2.90,平均期望杂合度He=0.290。紫杉醇含量与群体遗传变异有着密切的关系。 Abstract：Genetic variation of ten isoenzymes was studied within population of Taxus yun nanensis Cheng et L. K. Fu in the Jinsha River Valley using the method of hor izo ntal starch gel electrophoresis.On the basis of banding analysis,eight enzyme sy stems , presumablly coded by fifteen isoenzyme loci and their alleles were score d , and fourteen were polymorphic with only one monomorphic locus（ME－3）. Amon g them , four polymorphic loci with inevident genetic variation made little cont ribution to genetic variation of this population and other ten polymorphic loci with evident genetic variation made great contribution to genetic variation of this population . Isoenzyme data indicated high level of genetic variability in this population with P=0.933,A=2.90,He=0.290 . The taxol content had close r elation to genetic variation of population.     

结直肠腺瘤的微卫星不稳定状态与相关基因表达的研究

应用微切割-聚合酶链反应-单链长度多态性（PCR-SSLP）的方法,检测59例62个结直肠腺瘤,包括散发性腺瘤及家族性腺瘤性息肉病（FAP）腺瘤在BAT26等16个微卫星基因座在结直肠腺瘤标本的微卫星不稳定性（MSI）状态;并应用免疫组织化学SP法检测β-连接素（β-catenin）、TP53、BAX等的表达情况,初步探讨错配修复（MMR）基因在结直肠癌发生的早期即腺瘤阶段的作用及其意义。结果显示：(1)腺瘤16个基因座的总MSI发生率为14.4%;同一病人的不同腺瘤在某些相同的基因座表现出不同的MSI状态;(2)5例FAP病人均表现为MSI-L,其中有3例在hMSH3基因座表现为MSI阳性;(3)β-连接素在腺瘤和腺癌细胞膜阳性率分别为42.9%和11.4%,表达差异有显著统计学意义（P＜0.001）;(4)TP53、D5S346、TCF4(A)9、TGFβRⅡ(GT)3、TGFβRⅡ(A)10等微卫星基因座的MSI改变与相应的免疫组织化学指标TP53、β-连接素、TGFβRⅡ等在腺瘤及腺癌中的阳性表达有密切关系。可以推断：(1)在结直肠癌发生发展的早期即腺瘤阶段即可表现微卫星不稳定性,腺瘤中存在1p染色体的改变、APC基因的改变及TGFβ信号转导途径的异常;(2)随着腺瘤向腺癌的进展,β-连接素的阳性着色由细胞膜转移至细胞内,而且胞浆阳性强度增加;可以推断腺瘤中APC-β-联蛋白-TCF4信号转导途径的异常。 Abstract:In order to understand the role of mismatch repair (MMR) gene in colorectal carcinogenesis,microsatellite instability (MSI) status of 16 microsatellite loci of 62 adenomas from 59 patients,including sporadic and familial adeonmatous polyposis (FAP) adenomas were detected by microdissection-PCR-SSLP,and protein expressions of β -catenin,P53,and BAX,etc.were assayed by immunohistochemistry.Results were as following:(1)The overall MSI alteration rate of the 16 loci was 14.4%.Different adenomas from the same patient showed different microsatellite alterations at the same loci;(2)All of the five FAP patients were MSI-L,three of which showed MSI at the locus of hMSH3;(3)The membrane expression rate of β-catenin in adenomas and accompanied carcinomas was 42.9% and 11.4%,respectively (P＜0.001);⑷Microsatellite alterations of the microsatellite loci of TP53,D5S346,TCF4(A)9,TGFβRⅡ(GT)3 and TGFβRⅡ(A)10 were associated with the changes of their protein expressions.It could be concluded the following:(1)Microsatellite instability existed even in the early stage (adenomas) of colorectal tumorigenesis.The alterations of chromosome 1p,APC genes,and the TGFβ signal transduction pathway could also be deduced;(2)In the progression of adenoma to carcinoma,the staining of β-catenin would be transferred from membrane to cytoplasm and then nucleus,and the cytoplasm stain was stronger in carcinoma than that in adenomas.The abnormality of the signal transduction pathway of APC-β-catenin-TCF4 could be concluded.     

Analysis of genetic diversity in the endangered Hucho taimen from China

Hucho taimen are listed as endangered in China. The population size has declined recently, prompting an increase in the level of listing from grade three in 2002 to grade five in 2006. We analyzed the genetic diversity of wild populations using 17 microsatellite markers to establish a scientific basis for conservation of this species. We collected tissue samples from four populations in the Heilongjiang River basin: Huma River (HM), Hutou (HT), Haiqing (HQ), and Zhuaji (ZJ). A total of 21 loci were amplified, 18 of which were polymorphic. The number of alleles per locus ranged from 2 to 9 (mean: 4.1905). There were 13 highly polymorphic loci and 5 moderately polymorphic loci. Analysis of five genetic diversity parameters (Na, Ne, Ho, He, and PIC) suggested moderate levels of diversity within the populations. The populations were ranked HT > HQ > ZJ > HM, but the differences in diversity were not statistically significant (P > 0.05). A comparison of variation among all four populations suggested Hardy–Weinberg disequilibrium at 20% of the loci. Genetic differentiation (Fst) was 0.0644 and the gene flow among populations was estimated at 3.36 individuals per generation. The majority of diversity (93.88%) occurred among individuals within a population. In contrast, relatively little (6.12%) of the genetic diversity was distributed between the populations. An analysis of genetic differentiation and genetic distance between pairs of populations revealed that both parameters were higher in comparisons of the HM population to the HT, HQ, and ZJ populations than among the three latter populations. This suggests that the HM population has a distinct genetic structure. We hypothesize that habitat degradation and excessive fishing, not low genetic diversity, has caused the decline in H. taimen populations. However, this species should be protected from further declines in genetic diversity.     

Analysis of genetic diversity in the endangered Hucho taimen from China

Hucho taimen are listed as endangered in China. The population size has declined recently, prompting an increase in the level of listing from grade three in 2002 to grade five in 2006. We analyzed the genetic diversity of wild populations using 17 microsatellite markers to establish a scientific basis for conservation of this species. We collected tissue samples from four populations in the Heilongjiang River basin: Huma River (HM), Hutou (HT), Haiqing (HQ), and Zhuaji (ZJ). A total of 21 loci were amplified, 18 of which were polymorphic. The number of alleles per locus ranged from 2 to 9 (mean: 4.1905). There were 13 highly polymorphic loci and 5 moderately polymorphic loci. Analysis of five genetic diversity parameters (Na, Ne, Ho, He, and PIC) suggested moderate levels of diversity within the populations. The populations were ranked HT > HQ > ZJ > HM, but the differences in diversity were not statistically significant (P > 0.05). A comparison of variation among all four populations suggested Hardy–Weinberg disequilibrium at 20% of the loci. Genetic differentiation (Fst) was 0.0644 and the gene flow among populations was estimated at 3.36 individuals per generation. The majority of diversity (93.88%) occurred among individuals within a population. In contrast, relatively little (6.12%) of the genetic diversity was distributed between the populations. An analysis of genetic differentiation and genetic distance between pairs of populations revealed that both parameters were higher in comparisons of the HM population to the HT, HQ, and ZJ populations than among the three latter populations. This suggests that the HM population has a distinct genetic structure. We hypothesize that habitat degradation and excessive fishing, not low genetic diversity, has caused the decline in H. taimen populations. However, this species should be protected from further declines in genetic diversity.     

日本落叶松群体的叶绿体SSR分析

利用叶绿体微卫星（cpSSR）分子标记对日本国内的7个日本落叶松（Larix kaempferi）群体遗传结构进行了研究。11对cpSSR引物中筛选出的3对多态性引物,共产生10个长度不同片段,在197个样品中组合出现10个不同的单倍型（haplotype）。各群体的单倍型差异较大。cpSSR基因座揭示了日本落叶松的遗传变异：平均等位基因数A=3.33,平均有效等位基因数NE=1.20,基因多样度HE=0.17,群体间变异占总群体变异的5.37%,遗传变异主要来自于群体内个体间。Abstract: Genetic structure of seven populations in Larix kaempferi in Japan was studied by use of cpSSR markers. Ten different length fragments in and ten different kinds of haplotypes were reduced in 197 samples based on 3 pairs of polymorphic primers screened from 11 pairs of primers. There were significant variant haplotypes among the populations. The genetic variation in the populations of Larix kaempferi was detected by using cpSSR with the number of average loci A=3.33, the number of average efficient loci NE=1.20, gene diversity HE=0.17 and 5.37% variation from different populations. The genetic variation was mainly from individuals in population.