Search Results

1 - 10 of 84 items :

  • SNP markers x
Clear All
Application of selected molecular markers in studies on forest trees

characterization of SNPs useful for ID control and parentage testing in major European dairy breeds. Animal Genetics, 35, 44-49. DOI: 10.1046/j.1365-2052.2003.01071.x. Williams C., Williamson R., Coutelle C., Loeffler F., Smith J., Ivinson A. 1988. Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification. Lancet, 2 (8602), 102-103. Williams J.G.K., Kubelik A.R., Livak K.J., Rafalski J.A., Tingey S.V. 1990. DNA polymorphisms amplified by arbitrary primers are useful as genetic markers. Nucleic Acids Research, 18 (22

Open access
Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics

procedures. The SNP-array karyotyping was performed using microarray Illumina Human CytoSNP-12 (Illumina Inc., San Diego, CA, USA). The microchip contains a total of number of 301,232 SNP variants representative of the entire human genome. Genomic positions refer to the Human Genome February 2009 assembly (GRCh37/hg19). Cytogenetic analysis revealed a low-level mosaicism in blood and skin of the girl with a cell line carrying a small additional marker ring chromosome: mos47,XX,+mar[4]/46,XX[96] (lymphocytes) and mos47,XX,+mar[16]/46,XX [84] (skin fibroblasts). The mother

Open access
Forensic Genetics and Genotyping

. Brief Bioinform. 2007;8(2): 117-28. [DOI: 10.1093/bib/bbm006]. 3. Ziętkiewicz E, Witt M, Daca P et al. Current genetic methodologies in the identification of disaster victims and in forensic analysis. J Appl Genet. 2012;53(1): 41-60. [DOI: 10.1007/s13353-011-0068-7]. 4. Pontes ML, Fondevila M, Laréu MV, Medeiros R. SNP Markers as Additional Information to Resolve Complex Kinship Cases. Transfus Med Hemother. 2015;42(6): 385-388. [DOI: 10.1159/000440832]. 5. Decorte R, Cassiman JJ. Forensic medicine and the polymerase chain reaction technique. J Med

Open access
Y Chromosome Single Nucleotide Polymorphisms Typing by SNaPshot MINISEQUENCING

References Jobling MA, Tyler-Smith C. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 2003; 4(8): 598-612. Lessig R, Zoledziewska M, Fahr K, Edelmann J, Kostrzewa M, Dobosz T, Kleemann WJ. Y-SNP-genotyping—a new approach in forensic analysis. Forensic Sci Int 2005; 154(2-3): 128-136. Krausz C, Quintana-Murci L, Forti G. Y chromosome polymorphisms in medicine. Ann Med 2004; 36(8): 573-583. Y Chromosome Consortium. A nomenclature

Open access
Single nucleotide polymorphisms in genes MACC1, RAD18, MMP7 and SDF-1a as prognostic factors in resectable colorectal cancer

practice. 16 , 17 Single nucleotide polymorphisms (SNPs) are molecular factors that might be useful as prognostic markers in CRC. Preliminary genome wide association (GWA) study in non-caucasian population has indicated a role of SNPs in resectable CRC. 18 We hypothesized that SNPs participating in genetic risk for CRC and metastasis might prove as a prognostic factor in resectable CRC. In our study, we have selected SNPs with higher frequency in patients with either local lymph node involvement or systemic dissemination in genes participating in CRC carcinogenesis

Open access
Genetic structure of Hucul and Anglo-Arabian horses at the Tert locus

via the EM algorithm. J. Roy. Stat.. Soc. B Met., 39 (1): 1-38. Excoffier L. (2010). Arlequin suite ver 3.5: A new series of programs to perform population genetics analyses under Linux and Windows. Mol. Ecol. Resour., 10: 564-567. Excoffier L., Slatkin M. (1995). Maximum-likelihood estimation of molecular haplotype frequencies inadiploid population. Mol. Biol. Evol., 12: 921-927. Grzybowski G., Prusak B. (2004). Genetic variation in nine European cattle breeds as determined on the basis of microsatellite markers. III

Open access
Genetic Differentiation of Common Fox Vulpes Vulpes (Linnaeus, 1758) on the Basis of the Insulin-Like Growth Factor 1 (Igf1), Myosin-Xv (Myo15a) and Paired Box Homeotic 3 (Pax3) Genes Fragments Polymorphism

References AquadroC.F., Bauer Du MontV., Reed F.A. (2001). Genome-wide variation in the human and fruitfly: a comparison. Curr. Opin. Genet. Dev., 11: 627-634. Aubry K.B., StathamM.J., Sacks B.N., PerrineJ.D., Wisely S.M. (2009). Phylogeography of the North American red fox: vicariance in Pleistocene forest refugia. Mol. Ecol., 18: 2668-2686. Brookes A.J. (1999). The essence of SNPs. Gene, 234: 177-186. Bugno - Poniewierska M., Sojecka A., Pawlina K., Jakubczak A., Jezewska - Witkowska G. (2012

Open access
Comparative expression analysis of human endogenous retrovirus elements in peripheral blood of children with specific language impairment

the data from the qRT-PCR experiment. The ROC analysis is widely used statistical method for assessing the ability of a potential test marker to distinguish between disease carriers and healthy individuals. It provides a statistical model that presents the sensitivity (or the true positive fraction) of the marker as a function of the false positive fraction (defined as 1-specificity) of the same marker at multiple thresholds. Discriminative performance is assessed by the area enclosed between the ROC curve and the X-axis of the graph, and this area is known as

Open access
Associations between vaspin rs2236242 gene polymorphism, walking time and the risk of metabolic syndrome

., amplification for 30 cycles at 95 °C for 1 min., 60 °C for 1 min., and 72 °C for 1 min., and a final extension at 72 °C for 8 min. After DNA amplification, the gel documentation system (InGenius; Syngene, Cambridge, Cambridgeshire, UK) was used for product visualization. The specific genotypes were characterized, respectively: 174 and 378 bp for homozygous T, 248 and 378 bp for homozygous A, and 174, 248 and 378 bp for heterozygous TA ( Figure 1 ). Figure 1 Electrophoresis patterns of T-ARMS PCR for the detection of SNPs in vaspin rs2236242. The product sizes were 174

Open access
The Use of SNP Microarrays for Biodiversity Studies of Sheep – A Review

Guidelines for Development of National Animal Genetic Resources Management Plans. Measurement of Domestic Animal Diversity (Mo DAD): Recommended Microsatellite Markers. FAO, Rome. FAO (2007). The state of the world’s animal genetic resources for food and agriculture. Rome, Italy, Fariello M.I., Servin B., Tosser - Klopp G., Rupp R., Moreno C., International Sheep Genomics Consortium, San Cristobal M., Boitard S. (2014). Selection Signatures in Worldwide Sheep Populations. PLo S ONE 9(8): e103813

Open access