Výsledky vyhledávání - "Polymorphism(s)"

Akademický článek

Test of the utility of apple retrotransposon insertion patterns for molecular identification of 'Jonathan' somatic mutants

Autor: Zs. Galli, B. Wichmann, E. Kiss, T. Szabó, L. Heszky

Publikováno v: International Journal of Horticultural Science, Vol 14, Iss 3 (2008)

Up until today, apple sport mutants proved to be indistinguishable from each other and their progenitors at the molecular level using random amplified polymorphic DNA (RAPD), amplified fragment length polymorphism (AFLP) and simple sequence repeat (S

Externí odkaz: https://doaj.org/article/9d7b9fa0ff454101b7985c6d5a67726f

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Akademický článek

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Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

Autor: Karl W. Broman, Ray White, Jeffrey C. Murray, Val C. Sheffield, James L. Weber

Publikováno v: The American Journal of Human Genetics. 63:861-869

SummaryComprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families; they incorporated >8,000 short tandem-repeat polymorphisms (STRPs), primarily from Généthon, the Cooperative Human Linkage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a178b9922fd96fcf5539b4bc192a5212
https://doi.org/10.1086/302011

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FTO Genotype and Type 2 Diabetes Mellitus: Spatial Analysis and Meta-Analysis of 62 Case-Control Studies from Different Regions

Autor: Ying Yang, Ling Hu, Huan-Yu Liu, Boyang Liu, Song-Mei Liu, Jing Yan, Wei Xia

Publikováno v: Genes
Genes, Vol 8, Iss 2, p 70 (2017)
Genes; Volume 8; Issue 2; Pages: 70

Type 2 diabetes mellitus (T2DM) is a global health problem that results from the interaction of environmental factors with genetic variants. Although a number of studies have suggested that genetic polymorphisms in the fat mass and obesity-associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::426cdacdc4b71a4d1d8349d0c5fac5c1
https://doi.org/10.3390/genes8020070

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Dental caries and enamelin haplotype

Autor: S. Opsahl Vital, Hervé Tassery, J.-Y. Sire, T. Davit-Béal, Frédéric Courson, A.G. Laffont, Catherine Chaussain, O. Chabadel, O. Laboux, C. Beldjord, E. Moulis, D. Droz, Alexandre Alcaïs, Barbara Gasse, J.M. Treluyer, J.C. Carel, Martine Hennequin, F. Vaysse, N. Bouazza

Publikováno v: Journal of Dental Research
Journal of Dental Research, 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩
Journal of Dental Research, SAGE Publications (UK and US), 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩

International audience; In the literature, the enamelin gene ENAM has been repeatedly designated as a possible candidate for caries susceptibility. Here, we checked whether ENAM variants could increase caries susceptibility. To this aim, we sequenced

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6e4293e455dd4d6a2eecb318d23797
https://pubmed.ncbi.nlm.nih.gov/24487377

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Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population

Autor: Lisa Taft, Gerald L. Feldman, W. Ted Brown, Patricia N. Howard-Peebles, Charles E. Schwartz, Kellen L. Meadows, James L. Newman, Elizabeth M. Rohlfs, Chris Gunter, N. J. Carpenter, Stephanie L. Sherman, Dana C. Crawford, Kristin G. Monaghan, Allan L. Reiss, Sarah L. Nolin, Stephen T. Warren

Publikováno v: The American Journal of Human Genetics. 66:480-493

SummaryPrevious studies have shown that specific short-tandem-repeat (STR) and single-nucleotide-polymorphism (SNP)–based haplotypes within and among unaffected and fragile X white populations are found to be associated with specific CGG-repeat pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2903d977dfb24eeca78d59bc6db03864
https://doi.org/10.1086/302762

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High Levels of Sequence Polymorphism and Linkage Disequilibrium at the Telomere of 12q: Implications for Telomere Biology and Human Evolution

Autor: Zoë H. Rosser, Joanna Coleman, Duncan M. Baird, Nicola J. Royle

Publikováno v: ResearcherID

SummaryThe human Xp/Yp telomere–junction region exhibits high levels of sequence polymorphism and linkage disequilibrium. To determine whether this is a general feature of human telomeres, we have undertaken sequence analysis at the 12q telomere an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70978565cc5020afae766c5016c7f4b9

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Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome

Autor: Noufissa Benchemsi, Francesc Calafell, Fabrício R. Santos, Elena Bosch, Chris Tyler-Smith, David Comas, Anna Pérez-Lezaun, Jaume Bertranpetit

Publikováno v: The American Journal of Human Genetics. 65:1623-1638

Eleven biallelic polymorphisms and seven short-tandem-repeat (STR) loci mapping on the nonrecombining portion of the human Y chromosome have been typed in men from northwestern Africa. Analysis of the biallelic markers, which represent probable uniqu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20c1b02e1e5e67c78e6885fe830f122
https://doi.org/10.1086/302676

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The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene

Autor: Zhili Lin, William B. Rizzo, Gael Carney

Publikováno v: The American Journal of Human Genetics. 65(6):1547-1560

Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). To define the molecular defects causing SLS, we performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46e5e5052dc6bdb1af00badc35441bfb

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