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Comprehensive Analysis of Pan-African Mitochondrial DNA Variation Provides New Insights into Continental Variation and Demography
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作者 Maria Cerezo Leonor Gusmao +6 位作者 Viktor Cerny Nabeel Uddin Denise Syndercombe-Court Alberto Gdmez-Carballa Tanja Gobel Peter M. Schneider Antonio Salas 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2016年第3期133-143,共11页
Africa is the cradle of all human beings, and although it has been the focus of a number of genetic studies, there are many questions that remain unresolved. We have performed one of the largest and most comprehensive... Africa is the cradle of all human beings, and although it has been the focus of a number of genetic studies, there are many questions that remain unresolved. We have performed one of the largest and most comprehensive meta-analyses of mitochondrial DNA (mtDNA) lineages carried out in the African continent to date. We generated high-throughput mtDNA single nucleotide polymorphism (SNP) data (230 SNPs) from 2024 Africans, where more than 500 of them were additionally genotyped for the control region. These data were analyzed together with over 12,700 control region profiles collected from the literature, representing more than 300 population samples from Africa. Insights into the African homeland of humans are discussed. Phylogeographic patterns for the African continent are shown at a high phylogeographic resolution as well as at the population and regional levels. The deepest branch of the mtDNA tree, haplogroup L0, shows the highest sub-haplogroup diversity in Southeast and East Africa, suggesting this region as the homeland for modem humans. Several demographic estimates point to the coast as a facilitator of human migration in Africa, but the data indicate complex patterns, perhaps mirroring the effect of recent continental-scaled demographic events in re-shaping African mtDNA variability. 展开更多
关键词 mtDNA HAPLOTYPE HAPLOGROUP SNP MALDI-TOF
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Whole exome sequencing identifies new susceptibility candidates underlying community-acquired pneumonia
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作者 Jacobo Pardo-Seco Sandra Viz-Lasheras +14 位作者 Xabier Bello Alberto Gomez-Carballa Alba Camino-Mera Sara Pischedda Maria Jose Curras-Tuala Irene Rivero-Calele Ana Dacosta-Urbieta Fernando Caamano-Vina Carmen Rodriguez-Tenreiro Sanchezz Isabel Cifuentes Cristina Mendez Chiea Chuen Khor Federico Martinon-Torres Antonio Salas on behalf of the CAPPRIC study group 《Genes & Diseases》 SCIE 2024年第6期47-51,共5页
Pneumonia is an inflammatory condition of the lung with symptoms that include productive dry cough,fever,chest pain,and difficulty breathing,and it is usually caused by viruses and bacteria,but also other microorganis... Pneumonia is an inflammatory condition of the lung with symptoms that include productive dry cough,fever,chest pain,and difficulty breathing,and it is usually caused by viruses and bacteria,but also other microorganisms(such as fungi and parasites).Community-acquired pneumonia(CAP)is a major cause of infectious diseases,hospitalization,and mortality,especially in the elderly population. 展开更多
关键词 pneumonia mortality lung
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Y-chromosome Peruvian origin of the 500-year-old Inca child mummy sacrificed in Cerro Aconcagua (Argentina) 被引量:1
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作者 Antonio Salas Laura Catelli +4 位作者 Jacobo Pardo-Seco Alberto Gomez-Carballa Federico Martinon-Torres Joaquin Roberto-Barcena Carlos Vullo 《Science Bulletin》 SCIE EI CAS CSCD 2018年第22期1457-1459,共3页
A frozen mummy was found in Cerro Aconcagua (Argentina)in 1985(Fig.1a-c).Archaeologists identified this mummy as a seven-year-old Inca sacrifice victim living at the time of the Inca Civilization about 500years ago [1... A frozen mummy was found in Cerro Aconcagua (Argentina)in 1985(Fig.1a-c).Archaeologists identified this mummy as a seven-year-old Inca sacrifice victim living at the time of the Inca Civilization about 500years ago [1].The child was sacrificed following an Incan ritual known as capacocha.The complete mitochondrial DNA (mtDNA) genome of this mummy was recently analyzed in Gomez-Carballa et al.[2].This mitogenome belongs to a new sub-branch of the Native American phylogeny named C1bi dated to approximately 14 thousand years ago (loja).Information retrieved from a large database of mtDNA profiles indicated the existence of a few closely related haplotypes in Peru (including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire)and the Aymaras from Bolivia.Overall these data suggested a Peruvian Inca origin for this C1bi haplotype,in good agreement with archaeological reports [1]. 展开更多
关键词 木乃伊 儿童
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