Investigative genetics最新文献

{"title":"The man behind the DNA fingerprints: an interview with Professor Sir Alec Jeffreys.","authors":"Alec J Jeffreys","doi":"10.1186/2041-2223-4-21","DOIUrl":"10.1186/2041-2223-4-21","url":null,"abstract":"<p><p>In this interview we talk with Professor Sir Alec Jeffreys about DNA fingerprinting, his wider scientific career, and the past, present and future of forensic DNA applications.The podcast with excerpts from this interview is available at: http://www.biomedcentral.com/biome/alec-jeffreys. </p>","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"21"},"PeriodicalIF":0.0,"publicationDate":"2013-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831583/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31876461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A tribute to DNA fingerprinting.","authors":"Manfred Kayser,&nbsp;Antti Sajantila,&nbsp;Bruce Budowle","doi":"10.1186/2041-2223-4-19","DOIUrl":"https://doi.org/10.1186/2041-2223-4-19","url":null,"abstract":"","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"19"},"PeriodicalIF":0.0,"publicationDate":"2013-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-19","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31875549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA fingerprinting in forensics: past, present, future.","authors":"Lutz Roewer","doi":"10.1186/2041-2223-4-22","DOIUrl":"https://doi.org/10.1186/2041-2223-4-22","url":null,"abstract":"<p><p>DNA fingerprinting, one of the great discoveries of the late 20th century, has revolutionized forensic investigations. This review briefly recapitulates 30 years of progress in forensic DNA analysis which helps to convict criminals, exonerate the wrongly accused, and identify victims of crime, disasters, and war. Current standard methods based on short tandem repeats (STRs) as well as lineage markers (Y chromosome, mitochondrial DNA) are covered and applications are illustrated by casework examples. Benefits and risks of expanding forensic DNA databases are discussed and we ask what the future holds for forensic DNA fingerprinting. </p>","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"22"},"PeriodicalIF":0.0,"publicationDate":"2013-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-22","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31876729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editors' pick: transcriptomes of 1000 genomes.","authors":"Antti Sajantila","doi":"10.1186/2041-2223-4-17","DOIUrl":"10.1186/2041-2223-4-17","url":null,"abstract":"","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"17"},"PeriodicalIF":0.0,"publicationDate":"2013-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31818111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted sampling of cementum for recovery of nuclear DNA from human teeth and the impact of common decontamination measures.","authors":"Denice Higgins,&nbsp;John Kaidonis,&nbsp;Grant Townsend,&nbsp;Toby Hughes,&nbsp;Jeremy J Austin","doi":"10.1186/2041-2223-4-18","DOIUrl":"https://doi.org/10.1186/2041-2223-4-18","url":null,"abstract":"<p><strong>Background: </strong>Teeth are a valuable source of DNA for identification of fragmented and degraded human remains. While the value of dental pulp as a source of DNA is well established, the quantity and presentation of DNA in the hard dental tissues has not been extensively studied. Without this knowledge common decontamination, sampling and DNA extraction techniques may be suboptimal. Targeted sampling of specific dental tissues could maximise DNA profiling success, while minimising the need for laborious sampling protocols and DNA extraction techniques, thus improving workflows and efficiencies. We aimed to determine the location of cellular DNA in non-degraded human teeth to quantify the yield of nuclear DNA from cementum, the most accessible and easily sampled dental tissue, and to investigate the effect of a common decontamination method, treatment with sodium hypochlorite (bleach).We examined teeth histologically and subsequently quantified the yield of nuclear DNA from the cementum of 66 human third molar teeth. We also explored the effects of bleach (at varying concentrations and exposure times) on nuclear DNA within teeth, using histological and quantitative PCR methods.</p><p><strong>Results: </strong>Histology confirmed the presence of nucleated cells within pulp and cementum, but not in dentine. Nuclear DNA yields from cementum varied substantially between individuals but all samples gave sufficient DNA (from as little as 20 mg of tissue) to produce full short tandem repeat (STR) profiles. Variation in yield between individuals was not influenced by chronological age or sex of the donor. Bleach treatment with solutions as dilute as 2.5% for as little as 1 min damaged the visible nuclear material and reduced DNA yields from cementum by an order of magnitude.</p><p><strong>Conclusions: </strong>Cementum is a valuable, and easily accessible, source of nuclear DNA from teeth, and may be a preferred source where large numbers of individuals need to be sampled quickly (for example, mass disaster victim identification) without the need for specialist equipment or from diseased and degraded teeth, where pulp is absent. Indiscriminant sampling and decontamination protocols applied to the outer surface of teeth can destroy this DNA, reducing the likelihood of successful STR typing results.</p>","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"18"},"PeriodicalIF":0.0,"publicationDate":"2013-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-18","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31819215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fully integrated, fully automated generation of short tandem repeat profiles.","authors":"Eugene Tan,&nbsp;Rosemary S Turingan,&nbsp;Catherine Hogan,&nbsp;Sameer Vasantgadkar,&nbsp;Luke Palombo,&nbsp;James W Schumm,&nbsp;Richard F Selden","doi":"10.1186/2041-2223-4-16","DOIUrl":"https://doi.org/10.1186/2041-2223-4-16","url":null,"abstract":"<p><strong>Background: </strong>The generation of short tandem repeat profiles, also referred to as 'DNA typing,' is not currently performed outside the laboratory because the process requires highly skilled technical operators and a controlled laboratory environment and infrastructure with several specialized instruments. The goal of this work was to develop a fully integrated system for the automated generation of short tandem repeat profiles from buccal swab samples, to improve forensic laboratory process flow as well as to enable short tandem repeat profile generation to be performed in police stations and in field-forward military, intelligence, and homeland security settings.</p><p><strong>Results: </strong>An integrated system was developed consisting of an injection-molded microfluidic BioChipSet cassette, a ruggedized instrument, and expert system software. For each of five buccal swabs, the system purifies DNA using guanidinium-based lysis and silica binding, amplifies 15 short tandem repeat loci and the amelogenin locus, electrophoretically separates the resulting amplicons, and generates a profile. No operator processing of the samples is required, and the time from swab insertion to profile generation is 84 minutes. All required reagents are contained within the BioChipSet cassette; these consist of a lyophilized polymerase chain reaction mix and liquids for purification and electrophoretic separation.Profiles obtained from fully automated runs demonstrate that the integrated system generates concordant short tandem repeat profiles. The system exhibits single-base resolution from 100 to greater than 500 bases, with inter-run precision with a standard deviation of ±0.05 - 0.10 bases for most alleles. The reagents are stable for at least 6 months at 22°C, and the instrument has been designed and tested to Military Standard 810F for shock and vibration ruggedization. A nontechnical user can operate the system within or outside the laboratory.</p><p><strong>Conclusions: </strong>The integrated system represents the first generation of a turnkey approach to short tandem repeat profiling and has the potential for use in both the field (for example, police booking stations, the battlefield, borders and ports) and the forensic laboratory.</p>","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"16"},"PeriodicalIF":0.0,"publicationDate":"2013-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-16","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31633385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Victor McKusick and the history of medical genetics.","authors":"Kenneth M Weiss","doi":"10.1186/2041-2223-4-15","DOIUrl":"https://doi.org/10.1186/2041-2223-4-15","url":null,"abstract":"","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"15"},"PeriodicalIF":0.0,"publicationDate":"2013-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-15","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31753415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editors' Pick: mad and genius in the same gene?","authors":"Manfred Kayser","doi":"10.1186/2041-2223-4-14","DOIUrl":"https://doi.org/10.1186/2041-2223-4-14","url":null,"abstract":"","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2013-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-14","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31610740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.","authors":"Caroline M Nievergelt,&nbsp;Adam X Maihofer,&nbsp;Tatyana Shekhtman,&nbsp;Ondrej Libiger,&nbsp;Xudong Wang,&nbsp;Kenneth K Kidd,&nbsp;Judith R Kidd","doi":"10.1186/2041-2223-4-13","DOIUrl":"https://doi.org/10.1186/2041-2223-4-13","url":null,"abstract":"<p><strong>Background: </strong>Accurate determination of genetic ancestry is of high interest for many areas such as biomedical research, personal genomics and forensics. It remains an important topic in genetic association studies, as it has been shown that population stratification, if not appropriately considered, can lead to false-positive and -negative results. While large association studies typically extract ancestry information from available genome-wide SNP genotypes, many important clinical data sets on rare phenotypes and historical collections assembled before the GWAS area are in need of a feasible method (i.e., ease of genotyping, small number of markers) to infer the geographic origin and potential admixture of the study subjects. Here we report on the development, application and limitations of a small, multiplexable ancestry informative marker (AIM) panel of SNPs (or AISNP) developed specifically for this purpose.</p><p><strong>Results: </strong>Based on worldwide populations from the HGDP, a 41-AIM AISNP panel for multiplex application with the ABI SNPlex and a subset with 31 AIMs for the Sequenome iPLEX system were selected and found to be highly informative for inferring ancestry among the seven continental regions Africa, the Middle East, Europe, Central/South Asia, East Asia, the Americas and Oceania. The panel was found to be least informative for Eurasian populations, and additional AIMs for a higher resolution are suggested. A large reference set including over 4,000 subjects collected from 120 global populations was assembled to facilitate accurate ancestry determination. We show practical applications of this AIM panel, discuss its limitations for admixed individuals and suggest ways to incorporate ancestry information into genetic association studies.</p><p><strong>Conclusion: </strong>We demonstrated the utility of a small AISNP panel specifically developed to discern global ancestry. We believe that it will find wide application because of its feasibility and potential for a wide range of applications.</p>","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-13","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31191239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Double trouble.","authors":"Mark A Jobling","doi":"10.1186/2041-2223-4-12","DOIUrl":"https://doi.org/10.1186/2041-2223-4-12","url":null,"abstract":"","PeriodicalId":89160,"journal":{"name":"Investigative genetics","volume":"4 1","pages":"12"},"PeriodicalIF":0.0,"publicationDate":"2013-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2041-2223-4-12","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31537896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}