中国朝鲜族人群6个短串联重复序列位点的遗传多态性(英文)

背景:许多学者对不同国家、地区、民族人群的短串联重复序列多态性进行了研究报道,但朝鲜族人群短串联重复序列位点的多态性如何?目的:了解中国朝鲜族人群D16S539,D7S820,D13S317,CSF1PO,TPOX,THO16个短串联重复序列位点的遗传多态性分布,获得相应多态位点的群体遗传学数据。设计:单一样本观察。单位:牡丹江医学院生物教研室和DNA分析检测室。材料:收集2001-01/02牡丹江地区无血缘关系的朝鲜族个体100份血样。方法:应用聚合酶链反应扩增片段长度多态性分析方法对100名无血缘关系的朝鲜族个体进行样本基因型检测。主要观察指标:D16S539,D7S820,D13S317,CSF1PO,TPOX,THO16个短串联重复序列位点的样本基因型。结果:①D16S539基因座,观察到6个等位基因,18种基因型。②D7S820基因座,观察到7个等位基因,22种基因型。③D13S317基因座,观察到7个等位基因,23种基因型。④CSF1PO基因座,观察到6个等位基因,16种基因型。⑤TPOX基因座,观察到6个等位基因,11种基因型。⑥THO1基因座,观察到5个等位基因,12种基因型。结论:6个位点等位片段多态性分布均符合Hardy-Weinberg平衡定律。且具有较高的杂合度,所得到的等位基因频率等数据可以为中国朝鲜族人群遗传学研究提供依据。

中国朝鲜族人群6个短串联重复序列位点的遗传多态性

目的 了解中国朝鲜族人群 D16 S5 39,D7S82 0 ,D13S317,CSF1PO,TPOX,TH0 16个短串联重复序列 (shorttandem repeat,STR)位点的遗传多态性分布 ,获得相应多态位点的群体遗传学数据。方法 应用 PCR扩增片段长度多态性分析方法对 10 0名无血缘关系的朝鲜族个体进行了调查。结果 D16 S5 39基因座 ,观察到 6个等位基因 ,18种基因型 ;D7S82 0基因座 ,观察到 7个等位基因 ,2 2种基因型 ;D13S317基因座 ,观察到 7个等位基因 ,2 3种基因型 ;CSF1PO基因座 ,观察到 6个等位基因 ,16种基因型 ;TPOX基因座 ,观察到 6个等位基因 ,11种基因型 ;THO1基因座 ,观察到 5个等位基因 ,12种基因型。结论 6个位点等位片段多态性分布均符合 Hardy- Weinberg平衡定律。且具有较高的杂合度 ,所得到的等位基因频率等数据可以为中国朝鲜族人群法医个体识别。

系统发育基因组学研究进展

系统发育基因组学是利用全基因组数据构建系统发育树的新领域。全基因组数据能有效消除横向基因转移和类群间基因进化速率差异等因素对系统发育树的影响。根据所使用的全基因组数据的类型,可以将系统发育基因组学方法分为以下5类:多基因联合建树方法,基于基因含量的方法,基于基因排列信息的方法,基于序列短串含量特征信息的方法及基于代谢途径的方法。文章系统地总结了每一类方法的原理、速度、准确性、适用范围及在各个生物类群中的应用,并对系统发育基因组学的前景及面临的挑战进行了概述。

21三体综合征产前基因诊断的研究

[目的]建立一种准确、快速、简便的21三体综合征即唐氏综合征产前诊断技术,探讨应用串联重复序列信息进行21三体定性诊断的可行性。[方法]抽取109例高风险孕妇羊水,提取DNA,PCR扩增特异性STR片段,并对其进行非变性聚丙烯酰胺凝胶电泳及银染分析,通过电泳带型特征诊断21三体。同时选择17号染色体D17S953作为质控,排除羊水被母血污染造成对结果的影响。[结果]发现异常5例,其中D21S11异常2例,D21S1270异常3例。[结论]基于短串联重复序列(short tandem repeat,STR)的聚合酶链反应技术是一种简单、快速和可靠的21三体定性基因诊断技术,可应用于21三体的基因诊断和遗传筛查。

用分子克隆技术构建D12S375基因座等位基因分型标准物及汉、回、维族群体遗传学研究

采用分子克隆技术大量制备STR基因座等位基因分型标准物 ,解决长期困扰STR分型的准确性和标准化问题。PCR扩增出D12S375基因座的 7个等位基因片段 ,将其插入pUC重组质粒中 ,经DNA测序分析证实插入片段的结构及大小 ,按重复单位的重复次数对插入的等位基因片段进行命名 ,最后经转染、扩增及再鉴定后制备出标准D12S375基因座等位基因分型标准物。应用此分型标准物 ,调查D12S375基因座在成都汉族 ,甘肃回族及新疆维族群体中的基因型分布频率 ,评估其在法医学实践中的应用价值。

中国朝鲜族人群3个STR位点的遗传多态性研究

目的 了解中国朝鲜族人群 3个STR位点即D16S539,D7S82 0 ,D13S317的遗传多态性分布 ,获得相应多态位点的群体遗传学数据。 方法 应用PCR扩增片段长度多态性分析方法对 10 0名无血缘关系的朝鲜族个体进行调查。 结果 显示 3个位点等位片断多态性分布均符合Hardy -Weinberg平衡定律 ,且具有较高的杂合度所得到的等位基因频率等数据可作为中国朝鲜族人群法医个体识别、亲子鉴定及遗传学研究提供依据。

Identification and Analysis of SSRs Derived from Protein-coding Genes in Grape

SSR(Simple Sequence Repeats), also known as microsatellites or STRs(short tandem repeats), are a type of PCRbased markers. So far, the version of grape genome has been updated constantly, but SSRs derived from protein-coding genes in grape have not yet been identified. In this study, 4 337 SSR-containing genes were found among 29 971 protein-coding genes in grape(Vitis vinifera L.), and 5 384 SSRs were found. There were 96 types of repeat motifs in SSRs derived from protein-coding genes in grape, and the most frequently occurring repeat motif was A/T. Among various repeat motifs in dinucleotide SSRs, the most frequently occurring repeat motif was AG/CT. Moreover, many genes exhibited codon usage bias, which was affected by the mutation pressure. GO annotation, KEGG annotation and domain analysis of these genes were performed.Several genes were found to be closely related to the synthesis and metabolism of secondary metabolites, synthesis of flavones or anthocyanins, development and morphology of plant organs, and tolerance to biotic or abiotic stresses, including transcription factors in MYB, Hsf, NBS and TPC families. This study laid a solid foundation for the development of SSR markers and research of QTLs controlling complex agronomic traits in grape.

Simplified microsatellite instability detection protocol provides equivalent sensitivity to robust detection strategies in Lynch syndrome patients

Objective:Germline mutations in mismatch repair(MMR)genes cause Lynch syndrome(LS).LS is an inherited disease,and an important consequence of MMR deficiency is microsatellite instability(MSI)phenotype.MSI phenotype influences the efficacy of5 fluorouracil(5-FU)chemotherapy.Reproducible,cost effective,and easy to perform laboratory tests are required to include MSI detection in routine laboratory practice.Evaluation of CAT25 as monomorphic short tandem repeat sequence enables CAT25 to be an efficient screening tool among hereditary nonpolyposis colorectal cancer(HNPCC)patients compared with other methods used currently.Methods:Based on Amsterdam II criteria,31 patients in 31 families were shortlisted from a total number of 1,659 colorectal cancer patients.MSI status was examined in these patients using CAT25 and a commercially available Promega MSI five-markerbased detection system as well as immunohistochemical(IHC)staining of four important MMR proteins.Patients were scored as high microsatellite instable(MSI-H),low(MSI-L),or stable(MSS).MSI status determined by CAT25 single mononucleotide marker was compared with that of five mononucleotide markers,Promega commercial kit,and IHC method.Results:MMR protein deficiency was observed on 7/31 probands using IHC methodology and 6/31 categorized as MSI-H using commercial kit or CAT25 single marker.The sensitivity and specificity of the CAT25 single marker were the same as those detected by five-marker Promega commercial kit in our patients.Conclusions:Based on our results,the performance of the CAT25 single mononucleotide marker for MSI status determination in our HNPCC patients is the same as that of the five-marker-based commercial kit.

Rapid, cost-effective DNA quantification via a visuallydetectable aggregation of superparamagnetic silicamagnetite nanoparticles

DNA and silica-coated magnetic particles entangle and form visible aggregates under chaotropic conditions with a rotating magnetic field, in a manner that enables quantification of DNA by image analysis. As a means of exploring the mechanism of this DNA quantitation assay, nanoscale SiO2-coated Fe304 （Fe3O4@SiO2） particles are synthesized via a solvothermal method. Characterization of the particles defines them to be -200 nm in diameter with a large surface area （141.89 m2/g）, possessing superparamagnetic properties and exhibiting high saturation magnetization （38 emu/g）. The synthesized Fe3O4@SiO2 nanoparticles are exploited in the DNA quantification assay and, as predicted, the nanoparticles provide better sensitivity than commercial microscale Dynabeads for quantifying DNA, with a detection limit of 4 kilobase-pair fragments of human DNA. Their utility is proven using nanoparticle DNA quantification to guide efficient polymerase chain reaction （PCR） amplification of short tandem repeat loci for human identification.

Genetic polymorphism analyses of a novel panel of 19 X-STR loci in the Chinese Uygur ethnic minority

The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat （X-STR） loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 （94 males and 139 females） unrelated healthy individuals. We observed 238 alleles at the 19 X-STR loci, with the corresponding gene frequencies spanning the range from 0.0021 to 0.5644. After Bonferroni correction （P〉0.0026）, there were no signif- icant deviations from Hardy-Weinberg equilibrium. The cumulative power of discrimination in females and males, and the probability of exclusion of the 19 X-STR loci were 0.999 999 999 999 999 999 998 091,0.999 999 999 999 966, and 0.999 999 986 35, respectively. The cumulative mean exclusion chance was 0.999 999 992 849 in deficiency cases, 0.999 999 999 999 628 in normal trios, and 0.999 999 998 722 in duo cases. The high value of the forensic parameters mentioned above revealed that the novel panel of 19 loci had important values for forensic applications in the LJygur group.