Base de dados : MEDLINE
Pesquisa : G14.340 [Categoria DeCS]
Referências encontradas : 1461 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 147 ir para página                         

  1 / 1461 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28457509
[Au] Autor:Fracasso NCA; de Andrade ES; Wiezel CEV; Andrade CCF; Zanão LR; da Silva MS; Marano LA; Donadi EA; C Castelli E; Simões AL; Mendes-Junior CT
[Ad] Endereço:Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900, Ribeirão Preto-SP, Brazil. Electronic address: nadiadeaguiar@gmail.com.
[Ti] Título:Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.
[So] Source:Leg Med (Tokyo);25:43-51, 2017 Mar.
[Is] ISSN:1873-4162
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation-Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.
[Mh] Termos MeSH primário: Cor de Olho/genética
Cor de Cabelo/genética
Haplótipos/genética
Melanose/genética
Pigmentação da Pele/genética
[Mh] Termos MeSH secundário: Alelos
Brasil
Frequência do Gene
Projeto Genoma Humano
Seres Humanos
Polimorfismo de Fragmento de Restrição
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE


  2 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29284020
[Au] Autor:Frost P; Kleisner K; Flegr J
[Ad] Endereço:Department of Anthropology, Université Laval, Quebec City, Canada.
[Ti] Título:Health status by gender, hair color, and eye color: Red-haired women are the most divergent.
[So] Source:PLoS One;12(12):e0190238, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Red hair is associated in women with pain sensitivity. This medical condition, and perhaps others, seems facilitated by the combination of being red-haired and female. We tested this hypothesis by questioning a large sample of Czech and Slovak respondents about the natural redness and darkness of their hair, their natural eye color, their physical and mental health (24 categories), and other personal attributes (height, weight, number of children, lifelong number of sexual partners, frequency of smoking). Red-haired women did worse than other women in ten health categories and better in only three, being particularly prone to colorectal, cervical, uterine, and ovarian cancer. Red-haired men showed a balanced pattern, doing better than other men in three health categories and worse in three. Number of children was the only category where both male and female redheads did better than other respondents. We also confirmed earlier findings that red hair is naturally more frequent in women than in men. Of the 'new' hair and eye colors, red hair diverges the most from the ancestral state of black hair and brown eyes, being the most sexually dimorphic variant not only in population frequency but also in health status. This divergent health status may have one or more causes: direct effects of red hair pigments (pheomelanins) or their by-products; effects of other genes that show linkage with genes involved in pheomelanin production; excessive prenatal exposure to estrogen (which facilitates expression of red hair during fetal development and which, at high levels, may cause health problems later in life); evolutionary recentness of red hair and corresponding lack of time to correct negative side effects; or genetic incompatibilities associated with the allele Val92Met, which seems to be of Neanderthal origin and is one of the alleles that can cause red hair.
[Mh] Termos MeSH primário: Cor de Olho
Cor de Cabelo
Nível de Saúde
Fatores Sexuais
[Mh] Termos MeSH secundário: República Tcheca
Feminino
Seres Humanos
Masculino
Eslováquia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171229
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190238


  3 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28973042
[Au] Autor:Caduff M; Bauer A; Jagannathan V; Leeb T
[Ad] Endereço:Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
[Ti] Título:OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.
[So] Source:PLoS One;12(10):e0185944, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G). The variant perfectly co-segregated with the phenotype in the family. We genotyped 181 control dogs with normal pigmentation from diverse breeds including 22 unrelated German Spitz dogs, which were all homozygous wildtype. Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1). Variants in the OCA2 gene cause oculocutaneous albinism type 2 (OCA2) in humans, pink-eyed dilution in mice, and similar phenotypes in corn snakes, medaka and Mexican cave tetra fish. We therefore conclude that the observed oculocutaneous albinism in German Spitz is most likely caused by the identified variant in the 5'-splice site of the first intron of the canine OCA2 gene.
[Mh] Termos MeSH primário: Albinismo Oculocutâneo/veterinária
Doenças do Cão/genética
Cães/genética
Cor de Olho/genética
Genótipo
Proteínas de Membrana Transportadoras/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Albinismo Oculocutâneo/genética
Animais
Éxons
Feminino
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Transport Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171004
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185944


  4 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28715582
[Au] Autor:Schwab C; Mayer C; Zalaudek I; Riedl R; Richtig M; Wackernagel W; Hofmann-Wellenhof R; Richtig G; Langmann G; Tarmann L; Wedrich A; Richtig E
[Ad] Endereço:Department of Ophthalmology, Medical University of Graz, Graz, Austria.
[Ti] Título:Iris Freckles a Potential Biomarker for Chronic Sun Damage.
[So] Source:Invest Ophthalmol Vis Sci;58(6):BIO174-BIO179, 2017 May 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: To investigate the role of sunlight exposure in iris freckles formation. Methods: We prospectively examined volunteers attending a skin cancer screening program conducted by ophthalmologists and dermatologists. Frequency and topographical variability of iris freckles were noted and associated with behavioral and dermatologic characteristics indicating high sun exposure. Results: Six hundred thirty-two participants (n = 360; 57% female) were examined. Mean age of all participants was 38.4 ± 18.4 years (range, 4-84 years). Of all individuals, 76.1% (n = 481) exhibited at least one iris freckle. Most freckles were observed in the inferior temporal quadrant. The presence of iris freckles was associated with higher age (participants with iris freckles: 41.8 ± 16.8 years versus participants without iris freckles: 27.6 ± 19.2 years), a high number of sunburns during lifetime (>10: 31% vs. 19%), sunlight-damaged skin (26% vs. 11%), presence of actinic lentigines (72% vs. 45%), and a high total nevus body count (>10; 78% vs. 67%). Conclusions: The association of iris freckles, behavioral factors, and dermatologic findings, as well as the topographical distribution, indicate that sunlight exposure may trigger the formation of iris freckles. The evaluation of iris freckles offers an easily accessible potential biomarker, which might be helpful in indicating sun damage on the skin associated with cutaneous malignancies. Furthermore, the evaluation of iris freckles could also be helpful in understanding the role of sunlight in several ophthalmologic diseases.
[Mh] Termos MeSH primário: Biomarcadores
Doenças da Íris/etiologia
Iris/efeitos da radiação
Melanose/etiologia
Lesões por Radiação/etiologia
Luz Solar/efeitos adversos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Envelhecimento/fisiologia
Criança
Pré-Escolar
Doença Crônica
Cor de Olho
Feminino
Seres Humanos
Doenças da Íris/diagnóstico
Masculino
Melanose/diagnóstico
Meia-Idade
Nevo Pigmentado/diagnóstico
Nevo Pigmentado/etiologia
Estudos Prospectivos
Lesões por Radiação/diagnóstico
Pele/efeitos da radiação
Neoplasias Cutâneas/diagnóstico
Neoplasias Cutâneas/etiologia
Queimadura Solar/complicações
Inquéritos e Questionários
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170728
[Lr] Data última revisão:
170728
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21751


  5 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28358108
[Ti] Título:Forensics: Germany considers wider use of DNA evidence in criminal cases.
[So] Source:Nature;543(7647):589-590, 2017 03 27.
[Is] ISSN:1476-4687
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Impressões Digitais de DNA/utilização
Ciências Forenses/métodos
[Mh] Termos MeSH secundário: Impressões Digitais de DNA/economia
Cor de Olho/genética
Feminino
Ciências Forenses/economia
Alemanha
Cor de Cabelo/genética
Seres Humanos
Masculino
Preconceito
Reprodutibilidade dos Testes
Pigmentação da Pele/genética
[Pt] Tipo de publicação:EDITORIAL
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170811
[Lr] Data última revisão:
170811
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.1038/543589b


  6 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28314239
[Au] Autor:Caliebe A; Walsh S; Liu F; Kayser M; Krawczak M
[Ad] Endereço:Institute of Medical Informatics and Statistics, Kiel University, Brunswiker Strasse 10, 24105 Kiel, Germany. Electronic address: caliebe@medinfo.uni-kiel.de.
[Ti] Título:Likelihood ratio and posterior odds in forensic genetics: Two sides of the same coin.
[So] Source:Forensic Sci Int Genet;28:203-210, 2017 May.
[Is] ISSN:1878-0326
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:It has become widely accepted in forensics that, owing to a lack of sensible priors, the evidential value of matching DNA profiles in trace donor identification or kinship analysis is most sensibly communicated in the form of a likelihood ratio (LR). This restraint does not abate the fact that the posterior odds (PO) would be the preferred basis for returning a verdict. A completely different situation holds for Forensic DNA Phenotyping (FDP), which is aimed at predicting externally visible characteristics (EVCs) of a trace donor from DNA left behind at the crime scene. FDP is intended to provide leads to the police investigation helping them to find unknown trace donors that are unidentifiable by DNA profiling. The statistical models underlying FDP typically yield posterior odds (PO) for an individual possessing a certain EVC. This apparent discrepancy has led to confusion as to when LR or PO is the appropriate outcome of forensic DNA analysis to be communicated to the investigating authorities. We thus set out to clarify the distinction between LR and PO in the context of forensic DNA profiling and FDP from a statistical point of view. In so doing, we also addressed the influence of population affiliation on LR and PO. In contrast to the well-known population dependency of the LR in DNA profiling, the PO as obtained in FDP may be widely population-independent. The actual degree of independence, however, is a matter of (i) how much of the causality of the respective EVC is captured by the genetic markers used for FDP and (ii) by the extent to which non-genetic such as environmental causal factors of the same EVC are distributed equally throughout populations. The fact that an LR should be communicated in cases of DNA profiling whereas the PO are suitable for FDP does not conflict with theory, but rather reflects the immanent differences between these two forensic applications of DNA information.
[Mh] Termos MeSH primário: Teorema de Bayes
Genética Forense
Funções Verossimilhança
[Mh] Termos MeSH secundário: Impressões Digitais de DNA
Cor de Olho/genética
Seres Humanos
Fenótipo
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170318
[St] Status:MEDLINE


  7 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28158254
[Au] Autor:Mayekar HV; Kodandaramaiah U
[Ad] Endereço:IISER-TVM Centre for Research and Education in Ecology and Evolution (ICREEE), School of Biology, Indian Institute of Science Education and Research Thiruvananthapuram, Maruthamala P.O. Vithura, Thiruvananthapuram, Kerala, India.
[Ti] Título:Pupal colour plasticity in a tropical butterfly, Mycalesis mineus (Nymphalidae: Satyrinae).
[So] Source:PLoS One;12(2):e0171482, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lepidopteran insects have provided excellent study systems for understanding adaptive phenotypic plasticity. Although there are a few well-studied examples of adult plasticity among tropical butterflies, our understanding of plasticity of larval and pupal stages is largely restricted to temperate butterflies. The environmental parameters inducing phenotypic plasticity and the selective pressures acting on phenotypes are likely to differ across tropical and temperate climate regimes. We tested the influence of relative humidity (RH), a prominent yet under-appreciated tropical climatic component, along with pupation substrate, larval development time, pupal sex and weight in determining pupal colour in the tropical satyrine butterfly Mycalesis mineus. Pupae of this butterfly are either brown or green or very rarely intermediate. Larvae were reared at high (85%) and low (60%) RH at a constant temperature. Proportions of green and brown pupae were expected to vary across low and high RH and pupation substrates in order to enhance crypsis. Brown pupae were more common at low RH than at high RH, as predicted, and developed faster than green pupae. Pupal colour was correlated with pupation substrate. Choice of pupation substrate differed across RH treatments. It is unclear whether pupal colour influences substrate selection or whether substrate influences pupal colour. Our study underscores the need for further work to understand the basis of pupal plasticity in tropical butterflies.
[Mh] Termos MeSH primário: Borboletas/fisiologia
Cor de Olho/fisiologia
Pupila/fisiologia
[Mh] Termos MeSH secundário: Adaptação Fisiológica
Animais
Borboletas/crescimento & desenvolvimento
Feminino
Umidade
Masculino
Pupa/crescimento & desenvolvimento
Caracteres Sexuais
Fatores de Tempo
Clima Tropical
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170204
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0171482


  8 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27841004
[Au] Autor:Mehta B; Daniel R; Phillips C; McNevin D
[Ad] Endereço:National Centre for Forensic Studies, Faculty of Education, Science, Technology and Mathematics (ESTeM), University of Canberra, Bruce, ACT, 2617, Australia. bhavik.mehta@hotmail.com.
[Ti] Título:Forensically relevant SNaPshot assays for human DNA SNP analysis: a review.
[So] Source:Int J Legal Med;131(1):21-37, 2017 Jan.
[Is] ISSN:1437-1596
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Short tandem repeats are the gold standard for human identification but are not informative for forensic DNA phenotyping (FDP). Single-nucleotide polymorphisms (SNPs) as genetic markers can be applied to both identification and FDP. The concept of DNA intelligence emerged with the potential for SNPs to infer biogeographical ancestry (BGA) and externally visible characteristics (EVCs), which together enable the FDP process. For more than a decade, the SNaPshot technique has been utilised to analyse identity and FDP-associated SNPs in forensic DNA analysis. SNaPshot is a single-base extension (SBE) assay with capillary electrophoresis as its detection system. This multiplexing technique offers the advantage of easy integration into operational forensic laboratories without the requirement for any additional equipment. Further, the SNP panels from SNaPshot assays can be incorporated into customised panels for massively parallel sequencing (MPS). Many SNaPshot assays are available for identity, BGA and EVC profiling with examples including the well-known SNPforID 52-plex identity assay, the SNPforID 34-plex BGA assay and the HIrisPlex EVC assay. This review lists the major forensically relevant SNaPshot assays for human DNA SNP analysis and can be used as a guide for selecting the appropriate assay for specific identity and FDP applications.
[Mh] Termos MeSH primário: DNA/genética
Eletroforese Capilar
Genética Forense/métodos
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Animais
Bactérias/genética
Tipagem e Reações Cruzadas Sanguíneas/métodos
Cromossomos Humanos Y
Conservação dos Recursos Naturais
Grupos de Populações Continentais/genética
Espécies em Perigo de Extinção
Cor de Olho/genética
Genética Populacional
Genótipo
Técnicas de Genotipagem
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Insetos/genética
Reação em Cadeia da Polimerase Multiplex
Pigmentação da Pele/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161115
[St] Status:MEDLINE
[do] DOI:10.1007/s00414-016-1490-5


  9 / 1461 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27780108
[Au] Autor:Chaitanya L; Pajnic IZ; Walsh S; Balazic J; Zupanc T; Kayser M
[Ad] Endereço:Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
[Ti] Título:Bringing colour back after 70 years: Predicting eye and hair colour from skeletal remains of World War II victims using the HIrisPlex system.
[So] Source:Forensic Sci Int Genet;26:48-57, 2017 Jan.
[Is] ISSN:1878-0326
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Retrieving information about externally visible characteristics from DNA can provide investigative leads to find unknown perpetrators, and can also help in disaster victim and other missing person identification cases. Aiming for the application to both types of forensic casework, we previously developed and forensically validated the HIrisPlex test system enabling parallel DNA prediction of eye and hair colour. Although a recent proof-of-principle study demonstrated the general suitability of the HIrisPlex system for successfully analysing DNA from bones and teeth of various storage times and conditions, practical case applications to human remains are scarce. In this study, we applied the HIrisPlex system to 49 DNA samples obtained from bones or teeth of World War II victims excavated at six sites, mostly mass graves, in Slovenia. PCR-based DNA quantification ranged from 4pg/µl to 313pg/µl and on an average was 41pg/µl across all samples. All 49 samples generated complete HIrisPlex profiles with the exception of one MC1R DNA marker (N29insA) missing in 83.7% of the samples. In 44 of the 49 samples (89.8%) complete 15-loci autosomal STR (plus amelogenin) profiles were obtained. Of 5 pairs of skeletal remains for which STR profiling suggested an origin in the same individuals, respectively, 4 showed the same HIrisPlex profiles and predicted eye and hair colours, respectively, while discrepancies in one pair (sample 26 and 43) are likely to be explained by DNA quantity and quality issues observed in sample 43. Sample 43 had the lowest DNA concentration of only 4pg/µl, producing least reliable STR results and could be misleading in concluding that samples 43 and 26 originate from the same individual. The HIrisPlex-predicted eye and hair colours from two skeletal samples, suggested to derive from two brothers via STR profiling together with a living sister, were confirmed by the living sister's report. Overall, we demonstrate that after more than 70 years, HIrisPlex-based eye and hair colour prediction from skeletal remains is feasible with high success rate. Our results further encourage the use of the HIrisPlex system in missing person/disaster victim identification to aid the identification process in cases where ante-mortem samples or putative relatives are not directly available, and DNA predicted eye and hair colour information provides leads for locating them, allowing STRbased individual identification.
[Mh] Termos MeSH primário: DNA/genética
Cor de Olho/genética
Cor de Cabelo/genética
[Mh] Termos MeSH secundário: Amelogenina/genética
Osso e Ossos/química
Impressões Digitais de DNA
Conjuntos de Dados como Assunto
Marcadores Genéticos
Genótipo
Seres Humanos
Repetições de Microssatélites
Modelos Genéticos
Reação em Cadeia da Polimerase
Polimorfismo de Nucleotídeo Único
Eslovênia
Dente/química
II Guerra Mundial
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amelogenin); 0 (Genetic Markers); 9007-49-2 (DNA)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170614
[Lr] Data última revisão:
170614
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE


  10 / 1461 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27470319
[Au] Autor:Hollard C; Keyser C; Delabarde T; Gonzalez A; Vilela Lamego C; Zvénigorosky V; Ludes B
[Ad] Endereço:Institute of Legal Medicine, Université de Strasbourg, 11 rue Humann, 67085, Strasbourg, France. hollard@unistra.fr.
[Ti] Título:Case report: on the use of the HID-Ion AmpliSeq™ Ancestry Panel in a real forensic case.
[So] Source:Int J Legal Med;131(2):351-358, 2017 Mar.
[Is] ISSN:1437-1596
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:In the absence of any other conclusive forensic evidence, DNA profiling is the method of choice for body identification. This study focuses on the case of a carbonized corpse whose complete autosomal short tandem repeat (STR) profile could not lead to direct identification by the investigators. To assist in the progress of investigation, we endeavoured to determine the biogeographical origin and eye colour of the deceased individual. Along with Y chromosome and mitochondrial DNA analyses, we applied a next-generation sequencing (NGS) approach to the study of ancestry informative markers (AIMs) using the HID-Ion AmpliSeq™ Ancestry Panel launched by Thermo Fisher Scientific. This work gave us the opportunity to test this new technology in a real forensic case. Although this study highlights the benefits of such a combined approach, as it markedly improves the specificity of the biogeographical profile, it also underlines the need for the accurate characterization of a larger collection of reference populations and the necessity of caution in data interpretation.
[Mh] Termos MeSH primário: Restos Mortais
Cromossomos Humanos Y
Impressões Digitais de DNA
DNA Mitocondrial/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Queimaduras
Bases de Dados de Ácidos Nucleicos
Cor de Olho/genética
Marcadores Genéticos
Genética Populacional
Genótipo
Haplótipos
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Repetições de Microssatélites
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 0 (Genetic Markers)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160730
[St] Status:MEDLINE
[do] DOI:10.1007/s00414-016-1425-1



página 1 de 147 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde