Sign inSubmit
Tips: “quotes” for a phrase · author:Lee · a DOI goes straight to its article

25 articles for “SNPs”
Set a search alert
Research ArticleOpen accessIn the abstractForensic Relationship between ATP6 Gene and Sperm Motility in a Saudi PopulationSafa A.M. Elsanousi, Murid Javed, Hamad Sufyan, Sayed A.M. AmerApproximately 600 bp of ATP synthase subunit 6 mitochondrial gene (ATP6) were amplified and sequenced for 110 semen samples collected from infertile and normal Saudi men inhabiting Riyadh province. These data were analyzed in order to identify the Single Nucleotide Polymorphisms (SNPs) associated with male infertility. Six silent substitutions G8697A, G8856A, T8889C, T8952C, C9075T and C9060A were recorded with one … …American Journal of Biochemistry and Biotechnology, Vol. 16, Issue 1 · 11 Jan 2020 · 7,617 accessesView PDFCite
Research ArticleOpen accessIn the abstractIdentification of Novel Mutations of AMH Gene in Iraqi Women with Premature Ovarian FailureFarah Amer Abed, Raya E. Maroof, Ulfat Mohammed Ali Al-NakkashAn over all of thirty females experiencing idiopathic POF and thirty controls have been studied and among them only six patients and four control were sent to sequence. The AMH gene fragments AMH1, AMH2 and AMH5 generates 530 bp, 288 bp and 1080 bp respectively were amplified. Fragments were sequenced and the results show six out of eight observed SNPs … …OnLine Journal of Biological Sciences, Vol. 18, Issue 4 · 11 Dec 2018 · 7,250 accessesView PDFCite
Research ArticleOpen accessIn the abstractThe Role of Receptor Activator of Nuclear Factor Kappa B (RANK) and Receptor Activator of Nuclear Factor Kappa B Ligand (RANKL) in Osteoporosis Risk: Gene Polymorphism and Soluble RANKL Level in Indonesia Post-Menopausal WomenLuluk Yunaini, Dwi Anita Suryandari, Linda Kusdhany et al.Hormonal changes in postmenopausal women may increase osteoclastogenesis that can lead to increased risk of osteoporosis. Receptor Activator of Nuclear factor Kappa B (RANK) and Receptor Activator of Nuclear factor Kappa B Ligand (RANKL) have an important role in osteoclastogenesis that involve in the regulation of bone resorption. In this study, we analyzed the Single Nucleotide Polymorphism (SNPs) within the … …OnLine Journal of Biological Sciences, Vol. 18, Issue 3 · 27 Sep 2018 · 8,180 accessesView PDFCite
Research ArticleOpen accessIn the abstractComparative Analysis of the Complete Chloroplast Genome of the Alloplasmic Sunflower (Helianthus L.) Lines with Various CMS TypesKirill Azarin, Maxim Makarenko, Alexander Usatov et al.The complete chloroplast genomes of sunflower fertile line HA89 and isonuclear CMS lines with four different cytoplasmic backgrounds (PET1, PET2, ANN2 and MAX) were sequenced. A total of 451 polymorphic sites, with including 58 SSRs, 317 SNPs and 76 microindels were revealed between the fertile and CMS cytotypes. Among the alloplasmic male-sterile lines, cpDNA of CMS-MAX had the largest number … …American Journal of Biochemistry and Biotechnology, Vol. 14, Issue 1 · 2 Mar 2018 · 9,415 accessesView PDFCite
Research ArticleOpen accessIn the abstractGenetic Mutation Assessment of NPM1 Gene and Gene Expression of MDR1 in Iraqi Patients with Acute Myeloid LeukemiaAhmed Abduljabbar Suleiman, Ali Zaid Al-Saffar, Tamadher Abbas Rafaa, Hasan Abdulwahab JwadSince its discovery, mutations in NPM1 have been frequently associated with a large number of Acute Myeloid Leukemia (AML) patients. The vast majority of genetic changes were previously detected in exon 12, however little information report mutations in Nuclear Export Signal region (NES) of NPM1. Sequencing analysis included exon 2 and 3 for 75 Iraqi AML patients showed three SNPs, … …OnLine Journal of Biological Sciences, Vol. 18, Issue 1 · 11 Jan 2018 · 7,782 accessesView PDFCite
Research ArticleOpen accessIn the abstractFrequency of Single Nucleotide Polymorphisms of the SLCO1B1 Gene in Slavic Population of Central EuropeMichaela Mikulová, Veronika Kramarova, Ján ChandogaThe organic anion transporting polypeptide 1B1 (encoded by SLCO1B1 gene) is involved in the active cellular influx of diverse endogenous compounds and several drugs, such as HMG-CoA reductase inhibitors (statins). Two common polymorphisms c.388A>G and c.521T>C in SLCO1B1 alter transport activity of this transporter and play an important role in the pharmaceutical response to many drugs. The aim of our … …OnLine Journal of Biological Sciences, Vol. 16, Issue 4 · 11 Dec 2016 · 7,308 accessesView PDFCite
Research ArticleOpen accessIn the abstractComparative Genomics of Domesticated and Wild Sunflower: Complete Chloroplast and Mitochondrial GenomesM. S. Makarenko, A. V. Usatov, N. V. Markin et al.The entire chloroplast and mitochondrial genomes of domesticated and wild type sunflower were sequenced. The comparative analysis of chloroplast genomes revealed 43 variant sites, including 21 polymorphic SSR loci and 22 SNPs. About 14 variant sites were found by collation of mitochondrial DNA (mtDNA), among them 4 SSRs, 8 SNPs and 2 deletions. About 9 SNPs were located in coding … …OnLine Journal of Biological Sciences, Vol. 16, Issue 1 · 29 Feb 2016 · 7,775 accessesView PDFCite
Research ArticleOpen accessIn the abstractOverdominance Effects between Malaria and Visceral Leishmaniasis in the 5q31 RegionMutaz Amin, Abdelbadea Elhassan, Kirk Rocket, Muntasir IbrahimA group of SNPs in 5q31, genotyped from Hausa tribe of Koka village in eastern Sudan; an area endemic with malaria and visceral leishmaniasis, were analyzed by The Leishmaniasis research group and found to have significant excess of heterozygosis level and departure from HWE and assumed to be due to natural selection resulting from notorious deadly outbreaks since various ethnic … …OnLine Journal of Biological Sciences, Vol. 15, Issue 4 · 18 Sep 2015 · 7,114 accessesView PDFCite
Research ArticleOpen accessIn the abstractTen Bioinformatics Tools for Single Nucleotide Polymorphisms DetectionMahin Ghorbani, Hamed KarimiSingle Nucleotide Polymorphisms (SNPs) as unique genetic variations are widely used as biomarkers for drug designing and development for individualized therapy. SNP genotyping techniques such as SBE with MS detection, SBE with fluorescence intensity detection, The FP-TDI, Pyrosequencing and The TaqMan 5’ nuclease assay are low-speed, time consuming and very expensive. To overcome such disadvantages, bioinformatics tools are emerged as … …Current Research in Bioinformatics, Vol. 3, Issue 2 · 10 Apr 2015 · 17,728 accessesView PDFCite
Research ArticleOpen accessIn the abstractUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDFCite