1000 resultados para DNA Teses


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To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen fo

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Background: A single case of paternal co-transmission ofmitochondrial DNA (mtDNA) in humans has been reported so far. Objective: To find potential instances of non-maternal inheritance of mtDNA. Methods: Published medical case studies (of single patients) were searched for irregular mtDNA patterns by comparing the given haplotype information for different clones or tissues with the worldwide mtDNA database as known to date-a method that has proved robust and reliable for the detection of flawed mtDNA sequence data. Results: More than 20 studies were found reporting clear cut instances with mtDNAs of different ancestries in single individuals. As examples, cases are reviewed from recent published reports which, at face value, may be taken as evidence for paternal inheritance of mtDNA or recombination. Conclusions: Multiple types (or recombinant types) of quite dissimilar mitochondrial DNA from different parts of the known mtDNA phylogeny are often reported in single individuals. From re-analyses and corrigenda of forensic mtDNA data, it is apparent that the phenomenon of mixed or mosaic mtDNA can be ascribed solely to contamination and sample mix up.

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Phantom mutations are systematic artifacts generated in the course of the sequencing process. Contra common belief these artificial mutations are nearly ubiquitous in sequencing results, albeit at frequencies that may vary dramatically. The amount of artifacts depends not only on the sort of automated sequencer and sequencing chemistry employed, but also on other lab-specific factors. An experimental study executed on four samples under various combinations of sequencing conditions revealed a number of phantom mutations occurring at the same sites of mitochondrial DNA (mtDNA) repeatedly. To confirm these and identify further hotspots for artifacts, > 5000 mtDNA electropherograms were screened for artificial patterns. Further, > 30000 published hypervariable segment 1 sequences were compared at potential hotspots for phantom mutations, especially for variation at positions 16085 and 16197. Resequencing of several samples confirmed the artificial nature of these and other polymorphisms in the original publications. Single-strand sequencing, as typically executed in medical and anthropological studies, is thus highly vulnerable to this kind of artifacts. In particular, phantom mutation hotspots could easily lead to misidentification of somatic mutations and to misinterpretations in all kinds of clinical mtDNA studies.

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To test the hypothesis that mitochondrial DNA (mtDNA) variants contribute to the susceptibility to schizophrenia, we sequenced the entire mtDNAs from 93 Japanese schizophrenic patients. Three non-synonymous homoplasmic variants in subunit six of the ATP s

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DNADNA,TypeBTypeA,,TypeATypeB,TypeATypeB,TypeBTypeA,,TypeBTypeA;TypeBTypeATypeA,TypeATypeATypeA,TypeB,DNA,

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60 , Kimura : DNA , DNA , DNA : Tajima (1989) D , , , DNA , ,

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,413DNA(mtDNA),Apa,Ava,BamH,Bcl,BcIBgl,Cla,Dra, EcoR,EcoR,Hae,Hind,Kpn,Pst,Pvu,Sac,Sal,Sma,StuXho20DNA 15.8KbDra7Ava6EcoRStu5HindHae4 BamH,Bgl,PstPvu3ApaCla14

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, DNA .

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STM DNA , . , ,

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, 5-. , 5-, DNA . DNA. , 5-. 5-, (Cm~(5)CT). DNA, GCAT

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DNA (mtDNA), . mtDNA . mtDNA , . , : 1), 2), 3)DNase, 4). , ,

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16150mtDNA(RFLP)31, Hae -13EcoRV-3Pst-3 , 28mtDNAUPGmtDNA: mtDNA; , 4428

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The three-dimensional molecular models of DNA triple helices and triple-stranded brain-like structure were built up by molecular architecture, and their structural features and energy decomposition were examined. The results showed: (i) The base triplet is the element forming braid-like and triple helix DNA; (ii) Under specified conditions, DNA could form the triplet-stranded braid-like structure; (iii) DNA stability of the braid-like structure is less than that of the triple helix structure. (C) 1995 Academic Press Limited.