Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products
Automated, direct cycle sequencing of purified double-stranded PCR products using Taq polymerase and fluorescently labeled dideoxynucleotide terminators provides a robust and highly reproducible method for identifying DNA sequence variations in sequence-tagged sites. We describe a simple and sensiti...
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| Veröffentlicht in: | Genomics 1994-09, Vol.23 (1), p.138-144 |
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| container_title | Genomics |
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| creator | Kwok, Pui-Yan Carlson, Christopher Yager, Thomas D. Ankener, Wendy Nickerson, Deborah A. |
| description | Automated, direct cycle sequencing of purified double-stranded PCR products using Taq polymerase and fluorescently labeled dideoxynucleotide terminators provides a robust and highly reproducible method for identifying DNA sequence variations in sequence-tagged sites. We describe a simple and sensitive strategy that reliably detects the presence of DNA variations when sequencing traces from several different individuals are compared. We also demonstrate the use of this strategy to estimate allele frequencies of single nucleotide substitutions in a population. Taken together, this approach provides an automated method for conducting rapid population studies of candidate gene regions that are in linkage or association with a specific disease and for comparative evolutionary analysis of selected regions of the human genome. |
| doi_str_mv | 10.1006/geno.1994.1469 |
| format | Article |
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We describe a simple and sensitive strategy that reliably detects the presence of DNA variations when sequencing traces from several different individuals are compared. We also demonstrate the use of this strategy to estimate allele frequencies of single nucleotide substitutions in a population. 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Psychology ; Gene Frequency ; GENE MUTATIONS ; GENES ; GENETIC VARIABILITY ; Genetic Variation ; GENOTYPE ; Humans ; INSTRUMENTATION, INCLUDING NUCLEAR AND PARTICLE DETECTORS ; Molecular and cellular biology ; Molecular Sequence Data ; MUTATION FREQUENCY ; NUCLEOTIDES ; POLYMERASE CHAIN REACTION ; RELIABILITY ; Reproducibility of Results ; Sequence Analysis, DNA - methods ; STATISTICS ; Taq Polymerase</subject><ispartof>Genomics, 1994-09, Vol.23 (1), p.138-144</ispartof><rights>1994 Academic Press</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c460t-eaeba2fd1b3d049cbf89335421bf073b7c677a1f7f1c27efc58415709c0084c03</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/geno.1994.1469$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,885,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4249808$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7829062$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/186061$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Kwok, Pui-Yan</creatorcontrib><creatorcontrib>Carlson, Christopher</creatorcontrib><creatorcontrib>Yager, Thomas D.</creatorcontrib><creatorcontrib>Ankener, Wendy</creatorcontrib><creatorcontrib>Nickerson, Deborah A.</creatorcontrib><title>Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products</title><title>Genomics</title><addtitle>Genomics</addtitle><description>Automated, direct cycle sequencing of purified double-stranded PCR products using Taq polymerase and fluorescently labeled dideoxynucleotide terminators provides a robust and highly reproducible method for identifying DNA sequence variations in sequence-tagged sites. 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We describe a simple and sensitive strategy that reliably detects the presence of DNA variations when sequencing traces from several different individuals are compared. We also demonstrate the use of this strategy to estimate allele frequencies of single nucleotide substitutions in a population. Taken together, this approach provides an automated method for conducting rapid population studies of candidate gene regions that are in linkage or association with a specific disease and for comparative evolutionary analysis of selected regions of the human genome.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>7829062</pmid><doi>10.1006/geno.1994.1469</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Alleles AUTOMATION Base Sequence Biological and medical sciences BIOLOGICAL EVOLUTION BIOLOGY AND MEDICINE, BASIC STUDIES DETECTION Diverse techniques DNA DNA - genetics DNA SEQUENCERS DNA SEQUENCING DNA-Directed DNA Polymerase EVALUATION FLUORESCENCE Fluorometry Fundamental and applied biological sciences. Psychology Gene Frequency GENE MUTATIONS GENES GENETIC VARIABILITY Genetic Variation GENOTYPE Humans INSTRUMENTATION, INCLUDING NUCLEAR AND PARTICLE DETECTORS Molecular and cellular biology Molecular Sequence Data MUTATION FREQUENCY NUCLEOTIDES POLYMERASE CHAIN REACTION RELIABILITY Reproducibility of Results Sequence Analysis, DNA - methods STATISTICS Taq Polymerase |
| title | Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products |
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