جستجوی مقالات مرتبط با کلیدواژه « SNPs » در نشریات گروه « زیست شناسی »

Recent advances in DNA sequencing techniques have led to an increase in the identification of single nucleotide polymorphisms (SNPs) in BRCA1 and BRCA2 genes, but no further information regarding the deleterious probability of many of them is available (Variants of Unknown Significance/VUS). As a result, in the current study, different sequence- and structure-based computational tools including SIFT, PolyPhen2, PANTHER, SNPs&GO, FATHMM, SNAP, PhD-SNP, Align-GVGD, and I-Mutant were utilized for determining how resulted BRCA protein is affected by corresponding missense mutations. FoldX was used to estimate mutational effects on the structural stabilityof BRCA proteins. Variants were considered extremely deleterious only when all tools predicted them to be deleterious. A total of 10 VUSs in BRCA1 (Cys39Ser, Cys64Gly, Phe861Cys, Arg1699Pro, Trp1718Cys, Phe1761Ser, Gly1788Asp, Val1804Gly, Trp1837Gly, and Trp1837Cys) and 12 in BRCA2 (Leu2510Pro, Asp2611Gly, Tyr2660Asp, Leu2686Pro, Leu2688Pro, Tyr2726Cys, Leu2792Pro, Gly2812Glu, Gly2813Glu, Arg2842Cys, Asp3073Gly, and Gly3076Val) were considered as extremely deleterious. Results suggested that deleterious variants were mostly enriched in theN- and C-terminal domain of the BRCA1 and BRCA2 C-terminus. Utilizing evolutionary conservation analysis, we demonstrated that the majority of deleterious SNPs ensue in highly conserved regions of BRCA genes. Furthermore, utilizing FoldX, we demonstrated that alterations in the function of proteins are not always together with stability alterations.

Atherosclerosis is one of the most important coronary artery disease (CAD) caused by lipid accumulation, hypertension, smoking, and many other factors such as environmental and genetic factors. It has been recorded that genetic variations in rs10757278 and rs1333049 are correlated with CAD. In the present study, 100 blood samples were collected (50 CAD patients and 50 appeared to be healthy controls), who referred to Ibn-Albytar general hospital/in Bagdad city for heart disease from February to March 2019. Genotyping for two SNPs  rs10757278 and rs1333049, were done by Tetra ARMS method. For the rs10757278 polymorphism, the GG genotype verses to AA genotype was significantly associated with the risk of CAD (OR=5.16, 95% CI:1.02-26.0, P=0.047). For the rs10757278 polymorphism, there was no significant associatin between genotypes and the susceptibiulity to CAD. In the present study, the rs10757278 polymorphism showed an association with CAD.

Tumor necrosis factor- a (TNF-α) is a cytokine that was identified as a factor with a wide range of proinflammatory activities. The expression of bovine TNF-α in mammary tissue during pregnancy seems to have a role in development of the corresponding glands.
Single nucleotide polymorphisms (SNPs) were defined in 3′-flanking region of bovine TNF-α in cattle. Moreover, its association with performance traits in Holstein dairy cattle was evaluated.
The 3′-flanking region of TNF-α was screened by single strand conformation polymorphism (SSCP) and DNA sequencing in Holstein cattle breed. SAS statistical software was used to analyze the relationship between different genotypes of amplified fragment with milk production traits (daily milk yield, fat and protein percentage) and somatic cell score (SCS).
A total of 6 distinct SSCP patterns were observed. It was further revealed to be 3 novel SNPs. Statistical analysis revealed that different haplotypes of amplified fragment in the TNF-α 3′-region had a significant effect on average daily milk production (p The association identified in the 3′-flanking region of TNF-α may have potential to serve as candidate genetic marker for genomic selection in dairy cattle.

Confirmation of olive oil authenticity and particularly virgin olive oil has a great importance. Several advanced chemical and genetic analyses have been used to monitor especial components; however، each has its limitations especially when detecting hazelnut-adulterated olive oil.. The objective of this research was to assess the presence of trace amount of hazelnut oil in olive oil (less than 10%) by Single Base Extension (SBE) and Fourier Transform InfraRed Spectroscopy (FTIR).. The study was based on the analysis of chloroplast DNA sequences using SBE to detect Single Nucleotide Polymorphisms (SNPs) in highly preserved DNA regions among olive and hazelnut species to differentiate pure and adulterated olive oil by means of two parallel tools; ABI PRISM sequencing and AcycloPrime Single Nucleotide Polymorphism Detection. Fourier -Transform InfraRed technique was used for FTIR spectrum comparisons of pure olive oil and hazelnut-adulterated one، as well.. Total DNA was extracted successfully from pure and hazelnut-adulterated olive oil، and it provided properly acceptable amplification with the primers designed on chloroplast region of both species and their admixture oil in different ratios; 50:50، 70:30، and vice versa. However، for lesser than 10% hazelnut oil in olive oil only SBE analysis provided recognizable results. FTIR spectra of oil samples were assessed at frequency regions of 4000 - 700 cm -1. Eight wave numbers (3007، 1373، 1237، 1120، 1098، 1032، 965، and 722 cm -1) of eleven differentiating ones were selected as candidate wave-numbers to distinguish pure and adulterated olive oil.. SBE technique proved to be an effective strategy to verify olive oil authenticity، especially from hazelnut-adulterated olive oil. However، FTIR technique provided trustable results only when higher than 10% hazelnut oil is present in olive oil..