Genetic analysis, techniques and applications最新文献

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Sources of bias in the detection and reporting of p53 mutations in human cancer: analysis of the IARC p53 mutation database 人类癌症中p53突变检测和报告的偏倚来源:IARC p53突变数据库分析
Genetic analysis, techniques and applications Pub Date : 1999-02-01 DOI: 10.1016/S1050-3862(98)00030-8
Tina Hernandez-Boussard, Ruggero Montesano, Pierre Hainaut
{"title":"Sources of bias in the detection and reporting of p53 mutations in human cancer: analysis of the IARC p53 mutation database","authors":"Tina Hernandez-Boussard,&nbsp;Ruggero Montesano,&nbsp;Pierre Hainaut","doi":"10.1016/S1050-3862(98)00030-8","DOIUrl":"10.1016/S1050-3862(98)00030-8","url":null,"abstract":"<div><p>p53 gene encodes a transcription factor with tumor suppressive properties and to date, somatic mutation of this gene is the most common genetic event in human cancer. A relational database has been developed to facilitate the retrieval and analysis of these mutations at the International Agency for Research on Cancer (IARC) and it currently contains information on over 8000 individual tumors and cell lines. Many factors may influence the detection and reporting of mutations, including selection of tumor samples, study design, choice of methods, and quality control. There is also concern that several biases may affect the way data appear in the literature. Minimizing these biases is an essential methodological issue in the development of mutation databases. In this paper, we review and discuss these main sources of bias and make recommendations to authors in order to minimize bias in mutation detection and reporting.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 5","pages":"Pages 229-233"},"PeriodicalIF":0.0,"publicationDate":"1999-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00030-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20957549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 24
Design and application of 2-D DGGE-based gene mutational scanning tests 基于dgge的二维基因突变扫描试验的设计与应用
Genetic analysis, techniques and applications Pub Date : 1999-02-01 DOI: 10.1016/S1050-3862(98)00028-X
Nathalie J. Van Orsouw, Jan Vijg
{"title":"Design and application of 2-D DGGE-based gene mutational scanning tests","authors":"Nathalie J. Van Orsouw,&nbsp;Jan Vijg","doi":"10.1016/S1050-3862(98)00028-X","DOIUrl":"10.1016/S1050-3862(98)00028-X","url":null,"abstract":"<div><p>Currently, there is a need for practical, accurate and cost-efficient tests to comprehensively scan human genes for disease-related DNA sequence variation. Two-dimensional gene scanning (TDGS) is a parallel mutation detection system, based on a combination of extensive multiplex PCR amplification (‘PCR megaplex’) and two-dimensional (2-D) DNA electrophoresis. The latter comprises a size separation step followed by denaturing gradient gel electrophoresis (DGGE), and allows single base pair changes to be distinguished among multiple DNA fragments in parallel. Here, we describe the rapid design of TDGS tests and its application to mutation identification in several large human cancer genes.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 5","pages":"Pages 205-213"},"PeriodicalIF":0.0,"publicationDate":"1999-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00028-X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20957546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 11
Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection 荧光共振能量转移检测单核苷酸多态性的均匀基因分型分析
Genetic analysis, techniques and applications Pub Date : 1999-02-01 DOI: 10.1016/S1050-3862(98)00016-3
Xiangning Chen, Pui-Yan Kwok
{"title":"Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection","authors":"Xiangning Chen,&nbsp;Pui-Yan Kwok","doi":"10.1016/S1050-3862(98)00016-3","DOIUrl":"10.1016/S1050-3862(98)00016-3","url":null,"abstract":"<div><p>A homogeneous detection mechanism based on fluorescence resonance energy transfer (FRET) has been developed for two DNA diagnostic tests. In the template-directed dye-terminator incorporation (TDI) assay, a donor dye-labeled primer is extended by DNA polymerase using allele-specific, acceptor dye-labeled ddNTPs. In the dye-labeled oligonucleotide ligation (DOL) assay, a donor dye-labeled common probe is joined to an allele-specific, acceptor dye-labeled probe by DNA ligase. Once the donor and acceptor dyes become part of a new molecule, intramolecular FRET is observed over background intermolecular FRET. The rise in FRET, therefore, can be used as an index for allele-specific ddNTP incorporation or probe ligation. Real time monitoring of FRET greatly increases the sensitivity and reliability of these assays. Change in FRET can also be measured by end-point reading when appropriate controls are included in the experiment. FRET detection proves to be a robust method in homogeneous DNA diagnostic assays.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 5","pages":"Pages 157-163"},"PeriodicalIF":0.0,"publicationDate":"1999-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00016-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20956119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 68
Discrimination of DNA duplexes with matched and mismatched tandem repeats by T4 endonuclease VII T4核酸内切酶鉴定匹配和不匹配串联重复序列的DNA双链
Genetic analysis, techniques and applications Pub Date : 1999-02-01 DOI: 10.1016/S1050-3862(98)00022-9
Gregg A. Surdi, Ron Yaar, Cassandra L. Smith
{"title":"Discrimination of DNA duplexes with matched and mismatched tandem repeats by T4 endonuclease VII","authors":"Gregg A. Surdi,&nbsp;Ron Yaar,&nbsp;Cassandra L. Smith","doi":"10.1016/S1050-3862(98)00022-9","DOIUrl":"10.1016/S1050-3862(98)00022-9","url":null,"abstract":"<div><p>A simple in situ method for scoring short tandem DNA repeat length has been developed using T4 endonuclease VII. This method measures tandem repeated simple sequences embedded in unique sequences. Single-stranded loops are formed on duplexes containing mismatched (different) numbers of tandem repeats. No single stranded loops are formed on structures containing matched (identical) numbers of tandem repeats. The matched and mismatched loop structures were distinguished and differentially labeled by enzymatic treatment with T4 endonuclease VII.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 5","pages":"Pages 177-179"},"PeriodicalIF":0.0,"publicationDate":"1999-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00022-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20956122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Microplate array diagonal gel electrophoresis (MADGE), CpG-PCR and temporal thermal ramp-MADGE (Melt-MADGE) for single nucleotide analyses in populations 微孔板阵列对角凝胶电泳(MADGE), CpG-PCR和时间热斜坡-MADGE (Melt-MADGE)用于群体单核苷酸分析
Genetic analysis, techniques and applications Pub Date : 1999-02-01 DOI: 10.1016/S1050-3862(98)00027-8
Ian N.M. Day, Sandra D. O’Dell, Emmanuel Spanakis, Glenn P. Weavind
{"title":"Microplate array diagonal gel electrophoresis (MADGE), CpG-PCR and temporal thermal ramp-MADGE (Melt-MADGE) for single nucleotide analyses in populations","authors":"Ian N.M. Day,&nbsp;Sandra D. O’Dell,&nbsp;Emmanuel Spanakis,&nbsp;Glenn P. Weavind","doi":"10.1016/S1050-3862(98)00027-8","DOIUrl":"10.1016/S1050-3862(98)00027-8","url":null,"abstract":"<div><p>Important requirements for molecular genetic epidemiological studies are economy, sample parallelism, convenience of setup and accessibility, goals inadequately met by existent approaches. We invented microplate array diagonal gel electrophoresis (MADGE) to gain simultaneously the advantages of simple setup, 96-well microplate compatibility, horizontal electrophoresis, and the resolution of polyacrylamide. At essentially no equipment cost (one simple plastic gel former), 10–100-fold savings on time for sample coding, liquid transfers, and data documentation, in addition to volume reductions and gel re-use, can be achieved. MADGE is compatible with ARMS, restriction analysis and other pattern analyses. CpG-PCR is a general PCR approach to CpG sites (10–20% of all human single base variation): both primers have 3′ T, and are abutted to the CpG, forcing a <em>TaqI</em> restriction site if the CpG is intact. Typically, a 52 bp PCR product is then cut in half. CpG-PCR also illustrates that PAGE-MADGE readily permits analysis of ‘ultrashort’ PCRs. Melt-MADGE employs real-time-variable-temperature electrophoresis to examine duplex mobility during melting, achieving DGGE-like de novo mutation scanning, but with the conveniences of arbitrary programmability, MADGE compatibility and short run time. This suite of methods enhances our capability to type or scan thousands of samples simultaneously, by 10–100-fold.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 5","pages":"Pages 197-204"},"PeriodicalIF":0.0,"publicationDate":"1999-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00027-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20957545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Greenbug (Homoptera: Aphididae) biotypes characterized using random amplified polymorphic DNA 用随机扩增的多态DNA鉴定绿虫(同翅目:蚜虫科)生物型
Genetic analysis, techniques and applications Pub Date : 1998-10-01 DOI: 10.1016/S1050-3862(98)00002-3
Felix O Aikhionbare , Kenneth P Pruess , Z.B Mayo
{"title":"Greenbug (Homoptera: Aphididae) biotypes characterized using random amplified polymorphic DNA","authors":"Felix O Aikhionbare ,&nbsp;Kenneth P Pruess ,&nbsp;Z.B Mayo","doi":"10.1016/S1050-3862(98)00002-3","DOIUrl":"10.1016/S1050-3862(98)00002-3","url":null,"abstract":"<div><p>Genomic DNA was extracted from seven greenbug, <em>Schizaphis graminum</em>, biotypes (B, C, E, F, G, H and I) obtained from laboratory colonies maintained by USDA-ARS, Stillwater, Oklahoma. DNA was amplified using single 10-base primers. Of 100 primers tested, four were found which either alone, or in combination, distinguished all biotypes by distinct size differences in amplified fragments. Results were repeatable using aphids obtained from the same colonies 2 years later. These diagnostic primers produced unvarying banding patterns for all biotype E greenbugs collected in the field in Nebraska, Kansas, Oklahoma, and Texas.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 4","pages":"Pages 105-108"},"PeriodicalIF":0.0,"publicationDate":"1998-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00002-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20745234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Randomly amplified polymorphic DNA (RAPD) for evaluating genetic relationships among varieties of guinea fowl 随机扩增多态性DNA (RAPD)评价珍珠鸡品种间亲缘关系
Genetic analysis, techniques and applications Pub Date : 1998-10-01 DOI: 10.1016/S1050-3862(98)00006-0
Deepak Sharma, K.B.C Appa Rao, H.P Singh, S.M Totey
{"title":"Randomly amplified polymorphic DNA (RAPD) for evaluating genetic relationships among varieties of guinea fowl","authors":"Deepak Sharma,&nbsp;K.B.C Appa Rao,&nbsp;H.P Singh,&nbsp;S.M Totey","doi":"10.1016/S1050-3862(98)00006-0","DOIUrl":"10.1016/S1050-3862(98)00006-0","url":null,"abstract":"<div><p>The present study investigated the use of randomly amplified polymorphic DNA (RAPD) in estimating the intra and inter varietal genetic variation in three varieties of guinea fowl (Lavender, Pearl and White). The estimates, measured as band sharing were high for within population (0.946–0.971) and between population (0.990–0.999) genetic similarity. The respective estimates were 0.898–0.929 and 0.923–0.928 when estimated as frequency of occurrence of bands. The results indicated a very low level of intra and inter varietal genetic variation in these guinea fowl varieties, which in turn suggested the low level of genetic variation in these populations. The possible reasons for this high genetic similarity has been discussed.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 4","pages":"Pages 125-128"},"PeriodicalIF":0.0,"publicationDate":"1998-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00006-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20745239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 31
Viability of E. coli cells containing phage RNA polymerase and promoter: interference of plasmid replication by transcription 含有噬菌体RNA聚合酶和启动子的大肠杆菌细胞的活力:转录对质粒复制的干扰
Genetic analysis, techniques and applications Pub Date : 1998-10-01 DOI: 10.1016/S1050-3862(98)00007-2
Young-Soo Kwon, Jinsuk Kim, Changwon Kang
{"title":"Viability of E. coli cells containing phage RNA polymerase and promoter: interference of plasmid replication by transcription","authors":"Young-Soo Kwon,&nbsp;Jinsuk Kim,&nbsp;Changwon Kang","doi":"10.1016/S1050-3862(98)00007-2","DOIUrl":"10.1016/S1050-3862(98)00007-2","url":null,"abstract":"<div><p>Strong transcription of phage promoters often renders the host <em>E. coli</em> cells containing the phage RNA polymerase inviable. When expression of the phage SP6 RNA polymerase gene in one plasmid was induced in the <em>E. coli</em> JM109 cells, cells that bear an active SP6 promoter were inviable. When it was not induced (the polymerase was still produced in low level), viability of the host cells and stability of the promoter-bearing plasmids depended on the orientation of the promoter with respect to that of the replication origin and on the sequence of the origin. A group of SP6 promoter-bearing plasmids (group I plasmids) that had the promoter directed towards the ColE1 replication origin, rendered the polymerase-containing host cells inviable in selective media. When the sequence of the origin was different (group II plasmids), this adverse effect was not observed. When the promoter direction was same as the replication origin and the ampicillin-resistant gene (group III plasmids), many satellites formed around the colonies on ampicillin-containing agar plates. These effects were caused by strong transcription of the phage SP6 promoter by its RNA polymerase, since they were reduced or eliminated by inserting an active terminator just downstream of the promoter. The viability of host cells and copy number of the promoter/terminator-bearing plasmids appear to be quantitatively related with efficiency of initiation and termination of the phage transcription. These systems may be useful for in vivo screening for mutant variants of the phage promoter, polymerase and terminator that are affected in their efficiency.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 4","pages":"Pages 133-139"},"PeriodicalIF":0.0,"publicationDate":"1998-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00007-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20745241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 17
An adhesion test system based on Schneider cells to determine genotype–phenotype correlations for mutated P0 proteins 基于施耐德细胞的粘附测试系统,用于确定突变P0蛋白的基因型-表型相关性
Genetic analysis, techniques and applications Pub Date : 1998-10-01 DOI: 10.1016/S1050-3862(98)00004-7
Arif Bülent Ekici , Christina Fuchs , Eva Nelis , Rainer Hillenbrand , Melitta Schachner , Christine Van Broeckhoven , Bernd Rautenstrauss
{"title":"An adhesion test system based on Schneider cells to determine genotype–phenotype correlations for mutated P0 proteins","authors":"Arif Bülent Ekici ,&nbsp;Christina Fuchs ,&nbsp;Eva Nelis ,&nbsp;Rainer Hillenbrand ,&nbsp;Melitta Schachner ,&nbsp;Christine Van Broeckhoven ,&nbsp;Bernd Rautenstrauss","doi":"10.1016/S1050-3862(98)00004-7","DOIUrl":"10.1016/S1050-3862(98)00004-7","url":null,"abstract":"<div><p>Myelin protein zero (MPZ, P0) is well known as the adhesion molecule responsible for the compaction of the myelin sheath of peripheral nerves. Mutations are linked to Charcot-Marie-Tooth syndrome type 1B (CMT1B) and the more severe Dejerine–Sottas syndrome (DSS). Three mutations leading to phenotypes of increasing severity (Ser34del/CMT1B, Ser34Cys/DSS, INS663GC/DSS) were expressed in S2 insect cells and resulted in a decreased adhesion capability in correlation with their respective phenotypes.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 4","pages":"Pages 117-119"},"PeriodicalIF":0.0,"publicationDate":"1998-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00004-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20745237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 15
Estimation of DNA single-strand breaks by single cells gel electrophoresis in tumor cells 单细胞凝胶电泳法测定肿瘤细胞DNA单链断裂
Genetic analysis, techniques and applications Pub Date : 1998-10-01 DOI: 10.1016/S1050-3862(98)00009-6
Susann Neubauer , Thomas Liehr , Stefan Birkenhake , Erich Gebhart , Rainer Fietkau , Rolf Sauer
{"title":"Estimation of DNA single-strand breaks by single cells gel electrophoresis in tumor cells","authors":"Susann Neubauer ,&nbsp;Thomas Liehr ,&nbsp;Stefan Birkenhake ,&nbsp;Erich Gebhart ,&nbsp;Rainer Fietkau ,&nbsp;Rolf Sauer","doi":"10.1016/S1050-3862(98)00009-6","DOIUrl":"10.1016/S1050-3862(98)00009-6","url":null,"abstract":"<div><p>To estimate the frequency of single-strand breaks on a single cell level the so-called comet-assay (single cell gel electrophoresis) is a well-established technique. We present a modified protocol suitable for testing primary tumors, a kind of tissue very uneasy to be analysed in former single cell gel electrophoresis assays. Tumor cells of 12 studied cases showed a typical dose-rate effect on in vitro irradiatiation with different X-ray doses, as observed in peripheral blood leukocytes. Interestingly, the repair capability of primary tumor cells was lower than that of peripheral blood leukocytes of the same patients.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"14 4","pages":"Pages 121-124"},"PeriodicalIF":0.0,"publicationDate":"1998-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(98)00009-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20745238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
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