A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region
A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detectin...
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Veröffentlicht in: | American journal of human genetics 2000-08, Vol.67 (2), p.432-443 |
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description | A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all heteroplasmy where the minor component is > or = 5%. Heteroplasmy was observed in 35 individuals (13.8%; 95% confidence interval [CI] 9.6-18.0). Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition known as "triplasmy"). Although heteroplasmy occurred at a total of 16 different positions throughout HV1, it was most frequently observed at positions 16093 (n=13) and 16129 (n=6). In addition, the majority of heteroplasmic variants occurred at low proportions and could not be detected by direct sequencing of PCR products. This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occurs at a broad spectrum of sites. Our results corroborate those of other recent reports indicating that heteroplasmy in the control region is more common than was previously believed-a finding that is of potential importance to evolutionary studies and forensic applications that are based on mtDNA variation. |
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A ; PARSONS, T. J ; STEIGHNER, R. J ; HOLLAND, M. M ; MARINO, M. A ; PRENGER, V. L</creator><creatorcontrib>TULLY, L. A ; PARSONS, T. J ; STEIGHNER, R. J ; HOLLAND, M. M ; MARINO, M. A ; PRENGER, V. L</creatorcontrib><description>A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all heteroplasmy where the minor component is > or = 5%. Heteroplasmy was observed in 35 individuals (13.8%; 95% confidence interval [CI] 9.6-18.0). Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition known as "triplasmy"). Although heteroplasmy occurred at a total of 16 different positions throughout HV1, it was most frequently observed at positions 16093 (n=13) and 16129 (n=6). In addition, the majority of heteroplasmic variants occurred at low proportions and could not be detected by direct sequencing of PCR products. This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occurs at a broad spectrum of sites. Our results corroborate those of other recent reports indicating that heteroplasmy in the control region is more common than was previously believed-a finding that is of potential importance to evolutionary studies and forensic applications that are based on mtDNA variation.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/302996</identifier><identifier>PMID: 10873789</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Base Sequence ; Biological and medical sciences ; Cytoplasm - genetics ; DNA Mutational Analysis - methods ; DNA, Mitochondrial - genetics ; Electrophoresis, Agar Gel ; Ethnic Groups - genetics ; Evolution, Molecular ; General aspects. Genetic counseling ; Genetic Variation - genetics ; Humans ; Least-Squares Analysis ; Medical genetics ; Medical sciences ; Mitochondria - genetics ; Mutation - genetics ; Nucleic Acid Denaturation - genetics ; Nucleic Acid Heteroduplexes - genetics ; Phylogeny ; Polymerase Chain Reaction ; Regulatory Sequences, Nucleic Acid - genetics ; Sensitivity and Specificity</subject><ispartof>American journal of human genetics, 2000-08, Vol.67 (2), p.432-443</ispartof><rights>2000 INIST-CNRS</rights><rights>This article is in the public domain.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287188/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287188/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,729,782,786,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1461691$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10873789$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>TULLY, L. A</creatorcontrib><creatorcontrib>PARSONS, T. J</creatorcontrib><creatorcontrib>STEIGHNER, R. J</creatorcontrib><creatorcontrib>HOLLAND, M. M</creatorcontrib><creatorcontrib>MARINO, M. A</creatorcontrib><creatorcontrib>PRENGER, V. L</creatorcontrib><title>A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all heteroplasmy where the minor component is > or = 5%. Heteroplasmy was observed in 35 individuals (13.8%; 95% confidence interval [CI] 9.6-18.0). Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition known as "triplasmy"). Although heteroplasmy occurred at a total of 16 different positions throughout HV1, it was most frequently observed at positions 16093 (n=13) and 16129 (n=6). In addition, the majority of heteroplasmic variants occurred at low proportions and could not be detected by direct sequencing of PCR products. This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occurs at a broad spectrum of sites. Our results corroborate those of other recent reports indicating that heteroplasmy in the control region is more common than was previously believed-a finding that is of potential importance to evolutionary studies and forensic applications that are based on mtDNA variation.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cytoplasm - genetics</subject><subject>DNA Mutational Analysis - methods</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Electrophoresis, Agar Gel</subject><subject>Ethnic Groups - genetics</subject><subject>Evolution, Molecular</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Variation - genetics</subject><subject>Humans</subject><subject>Least-Squares Analysis</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mitochondria - genetics</subject><subject>Mutation - genetics</subject><subject>Nucleic Acid Denaturation - genetics</subject><subject>Nucleic Acid Heteroduplexes - genetics</subject><subject>Phylogeny</subject><subject>Polymerase Chain Reaction</subject><subject>Regulatory Sequences, Nucleic Acid - genetics</subject><subject>Sensitivity and Specificity</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkUur1TAUhYMo3uNVf4JkIM6qebR5TITDvb7gohMdlzTdbSNpckzSA_0z_lYjHl-jTdjfWou9gtBTSl5SosQrTpjW4h460I7LRgjS3UcHQghrNNPyCj3K-SshlCrCH6KrKpFcKn1A3484Q8iuuDPgEYIpW3JhxnMyo4NQmhk8Bg-2pHhaYoLsMjY5mx0nOIPx9YUXNy94SvBtg2B3HCe8QIEq8CavO3YBL_sJ0tkkZwYPVTm7GDD9SZYF8LKtJuC13H48YhtDjfIX5jF6MNUMeHKZ1-jL2zefb943d5_efbg53jWBM1IaZgiMoyZWEamHSXPRjeMwaKk559BqzaQYWduyWg4dDFUtdKp2IAQw202EX6PXv3xP27DCaOvlyfj-lNxq0t5H4_r_N8Et_RzPPWVKUqWqwYuLQYq1hlz61WUL3psAccu9pKxra-MVfPZv0p-I319SgecXwGRr_JRMsC7_5VpBhab8B8qHnMY</recordid><startdate>20000801</startdate><enddate>20000801</enddate><creator>TULLY, L. A</creator><creator>PARSONS, T. J</creator><creator>STEIGHNER, R. J</creator><creator>HOLLAND, M. M</creator><creator>MARINO, M. A</creator><creator>PRENGER, V. L</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20000801</creationdate><title>A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region</title><author>TULLY, L. A ; PARSONS, T. J ; STEIGHNER, R. J ; HOLLAND, M. M ; MARINO, M. A ; PRENGER, V. L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-n320t-2a0edd90c8079bf9365ddbb979333e499276d24425371ba184e5808766e2c5f03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cytoplasm - genetics</topic><topic>DNA Mutational Analysis - methods</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Electrophoresis, Agar Gel</topic><topic>Ethnic Groups - genetics</topic><topic>Evolution, Molecular</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Variation - genetics</topic><topic>Humans</topic><topic>Least-Squares Analysis</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mitochondria - genetics</topic><topic>Mutation - genetics</topic><topic>Nucleic Acid Denaturation - genetics</topic><topic>Nucleic Acid Heteroduplexes - genetics</topic><topic>Phylogeny</topic><topic>Polymerase Chain Reaction</topic><topic>Regulatory Sequences, Nucleic Acid - genetics</topic><topic>Sensitivity and Specificity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>TULLY, L. A</creatorcontrib><creatorcontrib>PARSONS, T. J</creatorcontrib><creatorcontrib>STEIGHNER, R. J</creatorcontrib><creatorcontrib>HOLLAND, M. M</creatorcontrib><creatorcontrib>MARINO, M. A</creatorcontrib><creatorcontrib>PRENGER, V. L</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>TULLY, L. A</au><au>PARSONS, T. J</au><au>STEIGHNER, R. J</au><au>HOLLAND, M. M</au><au>MARINO, M. A</au><au>PRENGER, V. L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2000-08-01</date><risdate>2000</risdate><volume>67</volume><issue>2</issue><spage>432</spage><epage>443</epage><pages>432-443</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all heteroplasmy where the minor component is > or = 5%. Heteroplasmy was observed in 35 individuals (13.8%; 95% confidence interval [CI] 9.6-18.0). Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition known as "triplasmy"). Although heteroplasmy occurred at a total of 16 different positions throughout HV1, it was most frequently observed at positions 16093 (n=13) and 16129 (n=6). In addition, the majority of heteroplasmic variants occurred at low proportions and could not be detected by direct sequencing of PCR products. This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occurs at a broad spectrum of sites. 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subjects | Base Sequence Biological and medical sciences Cytoplasm - genetics DNA Mutational Analysis - methods DNA, Mitochondrial - genetics Electrophoresis, Agar Gel Ethnic Groups - genetics Evolution, Molecular General aspects. Genetic counseling Genetic Variation - genetics Humans Least-Squares Analysis Medical genetics Medical sciences Mitochondria - genetics Mutation - genetics Nucleic Acid Denaturation - genetics Nucleic Acid Heteroduplexes - genetics Phylogeny Polymerase Chain Reaction Regulatory Sequences, Nucleic Acid - genetics Sensitivity and Specificity |
title | A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region |
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