Genetic variations found in the coding and non-coding regions of a gene are known to influence the structure as well as the function of proteins. Serine palmitoyltransferase long chain subunit 1 a member of α-oxoamine synthase family is encoded by SPTLC1 gene which is a subunit of enzyme serine palmitoyltransferase (SPT). Mutations in SPTLC1 have been associated with hereditary sensory and auto...

background polymorphisms in the interferon λ (inf λ) genes on chromosome 19 have been associated with clearance of hepatitis c virus (hcv) induced by interferon and ribavirin therapy however there is no such data available for pakistani patients with hcv infection. objectives in this study, the effects of single nucleotide polymorphisms (snps) have been investigated in response to treatment wit...

it has been suggested that single nucleotide polymorphisms (snps) in genes involved in toll-like receptors (tlrs) pathway may exhibit broad effects on function of this network and might contribute to a range of human diseases. however, the extent to which these variations affect tlr signaling is not well understood. in this study, we adopted a bioinformatics approach to predict the consequences...

background esophageal, stomach, and colorectal cancers are commonly lethal gastrointestinal tract (git) neoplasms, causing almost two million deaths worldwide each year. some environmental risk factors are acknowledged; however, genetic defects can significantly contribute to predisposition to git cancers. accordingly, recent works have shown that single-nucleotide polymorphisms (snps) within m...

background: hypospadias is one of the most common congenital abnormalities in the male which is characterized by altered development of urethra, foreskin and ventral surface of the penis. androgen receptor gene plays a critical role in the development of the male genital system by mediating the androgens effects. objective: in present study, we looked for new variations in androgen receptor pro...

The whole genome resequencing was used to develop single nucleotide polymorphisms (SNP) markers for the yellow catfish (Tachysurus fulvidraco). A total of 46 SNP from 129 individuals were selected 5550676 genotyping which distributed on 26 chromosomes. Of SNPs analyzed, 35 conformed Hardy-Weinberg equilibrium. observed and expected heterozygosity these ranged 0.2519 0.771 0.265 0.5018, respecti...

Aim: This study aimed to investigate the relationship between severe novel coronavirus pneumonia (NCP) and hypercoagulable conditions that predispose patients thrombosis such as prothrombin gene ( F2) rs1799963 (G20210A), factor V Leiden F5) rs6025 (G1691A) PAI-1 (rs1799768). Patients: NCP-diagnosed 62 previously healthy were enrolled for investigation of thrombophilia-related polymorphisms. Ma...

Background: Regulatory CD4+T (Treg) cells are effective in maintaining immune tolerance. Objective: To investigate single nucleotide polymorphisms (SNPs) of Transforming Growth Factor β-1 (TGF-β1) and Forkhead Box Protein 3 (FOXP3) genes in Iranian patients with allergic rhinitis (AR). Methods: Variations at codons 10 and 25 of TGF-β1 and FOXP3 at positions -3279 A>C and -924 A>G were evaluated...

Introns qualify as Noncoding nucleotide sequences. In splicing, some segments of the RNA transcript (introns) are eliminated, other (exons) joining together in formation coding RNAs (mRNA, rRNA and tRNA). Also, Non-coding genes parts intronic. On average, there 7.8 introns 8.8 exons per human gene. Single polymorphisms (SNPs) existed various positions through gene, promoters, alternating region...

Estimating the phenotypic correlations between complex traits and diseases based on their genome-wide association summary statistics has been a useful technique in genetic epidemiology statistical genetics inference. Two state-of-the-art strategies, Z-score correlation across null-effect single nucleotide polymorphisms (SNPs) LD score regression intercept, were widely applied to estimate correl...