Identification in Portugal and Brazil of a mtDNA Lineage Containing a 9-bp Triplication of the Intergenic COII/tRNALys Region
Although the deletion of one of the 9-bp repeats in region V of mitochondrial DNA is very common in Asians, Asian-derived populations and Africans, the triplication of the 9-bp segment was described only a few times, mostly on individuals from Asian origin. Here, we report for the first time the pre...
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| Veröffentlicht in: | Human heredity 1999-01, Vol.49 (1), p.56-58 |
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| creator | Alves-Silva, Juliana Guimarães, Pedro E. M. Rocha, Jorge Pena, Sérgio D.J. Prado, Vania F. |
| description | Although the deletion of one of the 9-bp repeats in region V of mitochondrial DNA is very common in Asians, Asian-derived populations and Africans, the triplication of the 9-bp segment was described only a few times, mostly on individuals from Asian origin. Here, we report for the first time the presence of the 9-bp triplication in Europeans. The triplication was initially found in one Brazilian individual. Sequencing of the hypervariable segments I (HVSI) and II (HVS2) of the control region and RFLP analysis of the coding region classified the mtDNA as belonging to the European haplogroup H. Since white Brazilians are predominantly of Portuguese descent, we screened 96 unrelated Northern Portuguese for the 9-bp triplication and found its presence in two of them (2.1%). One of these had an mtDNA haplotype identical to that of the Brazilian individual, while the other differed in a single base change in HVS2. The fact that the 9-bp triplication has reached polymorphic frequencies in Northern Portugal and that it has apparently differentiated into at least two lineages defined by the mutuation in HVS2 suggests that it probably occurred a long time ago. |
| doi_str_mv | 10.1159/000022842 |
| format | Article |
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One of these had an mtDNA haplotype identical to that of the Brazilian individual, while the other differed in a single base change in HVS2. The fact that the 9-bp triplication has reached polymorphic frequencies in Northern Portugal and that it has apparently differentiated into at least two lineages defined by the mutuation in HVS2 suggests that it probably occurred a long time ago.</description><identifier>ISSN: 0001-5652</identifier><identifier>EISSN: 1423-0062</identifier><identifier>DOI: 10.1159/000022842</identifier><identifier>PMID: 9858860</identifier><identifier>CODEN: HUHEAS</identifier><language>eng</language><publisher>Basel, Switzerland: S. 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Since white Brazilians are predominantly of Portuguese descent, we screened 96 unrelated Northern Portuguese for the 9-bp triplication and found its presence in two of them (2.1%). One of these had an mtDNA haplotype identical to that of the Brazilian individual, while the other differed in a single base change in HVS2. 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M. ; Rocha, Jorge ; Pena, Sérgio D.J. ; Prado, Vania F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3490-86c1e634663aee9cb4eb87e31071bfc9c6f9db4a8309e1f8afc34eb0bed28a753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Brazil</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>DNA Transposable Elements - genetics</topic><topic>DNA, Mitochondrial - analysis</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Electron Transport Complex IV - genetics</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Human</topic><topic>Humans</topic><topic>Molecular Sequence Data</topic><topic>Mutagenesis, Insertional</topic><topic>Original Paper</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Portugal</topic><topic>RNA, Transfer, Lys - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Tandem Repeat Sequences</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Alves-Silva, Juliana</creatorcontrib><creatorcontrib>Guimarães, Pedro E. 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M.</au><au>Rocha, Jorge</au><au>Pena, Sérgio D.J.</au><au>Prado, Vania F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification in Portugal and Brazil of a mtDNA Lineage Containing a 9-bp Triplication of the Intergenic COII/tRNALys Region</atitle><jtitle>Human heredity</jtitle><addtitle>Hum Hered</addtitle><date>1999-01</date><risdate>1999</risdate><volume>49</volume><issue>1</issue><spage>56</spage><epage>58</epage><pages>56-58</pages><issn>0001-5652</issn><eissn>1423-0062</eissn><coden>HUHEAS</coden><abstract>Although the deletion of one of the 9-bp repeats in region V of mitochondrial DNA is very common in Asians, Asian-derived populations and Africans, the triplication of the 9-bp segment was described only a few times, mostly on individuals from Asian origin. Here, we report for the first time the presence of the 9-bp triplication in Europeans. The triplication was initially found in one Brazilian individual. Sequencing of the hypervariable segments I (HVSI) and II (HVS2) of the control region and RFLP analysis of the coding region classified the mtDNA as belonging to the European haplogroup H. Since white Brazilians are predominantly of Portuguese descent, we screened 96 unrelated Northern Portuguese for the 9-bp triplication and found its presence in two of them (2.1%). One of these had an mtDNA haplotype identical to that of the Brazilian individual, while the other differed in a single base change in HVS2. The fact that the 9-bp triplication has reached polymorphic frequencies in Northern Portugal and that it has apparently differentiated into at least two lineages defined by the mutuation in HVS2 suggests that it probably occurred a long time ago.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>9858860</pmid><doi>10.1159/000022842</doi><tpages>3</tpages></addata></record> |
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| ispartof | Human heredity, 1999-01, Vol.49 (1), p.56-58 |
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| source | Jstor Complete Legacy; Karger Journals; MEDLINE |
| subjects | Base Sequence Biological and medical sciences Brazil Classical genetics, quantitative genetics, hybrids DNA Transposable Elements - genetics DNA, Mitochondrial - analysis DNA, Mitochondrial - genetics Electron Transport Complex IV - genetics European Continental Ancestry Group - genetics Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human Humans Molecular Sequence Data Mutagenesis, Insertional Original Paper Polymorphism, Genetic Polymorphism, Restriction Fragment Length Portugal RNA, Transfer, Lys - genetics Sequence Analysis, DNA Tandem Repeat Sequences |
| title | Identification in Portugal and Brazil of a mtDNA Lineage Containing a 9-bp Triplication of the Intergenic COII/tRNALys Region |
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