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Showing 3 results for Single Nucleotide

Semira Kheiri, Mahdieh Safarzad, Mohammad Shariati, Hoda Sohrabi ,
Volume 12, Issue 5 (9-2018)
Abstract

ABSTRACT
            Background and Objectives: Non-synonymous single nucleotide polymorphisms are typical genetic variations that may potentially affect the structure or function of expressed proteins, and therefore could be involved in complex disorders. A computational-based analysis has been done to evaluate the phenotypic effect of non-synonymous single nucleotide polymorphisms in the gene encoding the human hypoxanthine-guanine phosphoribosyltransferase (HGPRT-1). HGPRT-1 is an enzyme involved in purine recycling pathway and its deficiency is associated with several human genetic disorders.
            Methods: We provide a list of all amino acid replacements in the human HGPRT-1 from the dbSNP, Uniprot and dbEST databases. Sorting intolerant from tolerant (SIFT) and PolyPhen softwares were also used in our study.
            Results: Of 94 amino acid substitutions, rs 267606863 was predicted to be the most deleterious. Substitutions of S110L and S104A in flexible loop and D194N, D201Y, H204R, Y195C, F199V and H204D in hood domain were predicted as functionally damaging.
            Conclusion: It could be concluded that these intolerant changes may lie within a functional region of the protein and may affect the stability and folding of HGPRT-1. These variants could be used for future functional and molecular epidemiology studies of HGPRT-1-related disorders.
            Keywords: Polymorphism, Single Nucleotide, Amino acid substitution, Hypoxanthine Phosphoribosyltransferase.

Mana Zakeri, Alireza Mohebbi, Fatemeh Sana Askari, Mohammad Yasaghi,
Volume 14, Issue 6 (11-2020)
Abstract

Background and objectives: Pathogenesis of human papillomaviruses (HPVs) is controlled by viral and host factors, among which human histone acetyltransferase p300 (EP300) plays an important role. This study aimed to examine single nucleotide polymorphisms (SNPs) at the EP300 binding site in patients with HPV-associated anogenital wart.
     Methods: After DNA extraction, polymerase chain reaction was performed to determine HPV genotypes. Human p300 was amplified to detect SNPs using Sanger sequencing.
     Results: Overall, 35.3% of HPV-6-positive patients had Ile997Val substitution at the EP300 binding site. Another SNP containing A to G point mutation leading to Glu983Gly was also detected. In addition, Ile997Val substitution of EP300 was frequently observed in the patients.
     Conclusion: Our findings suggest that the EP300 genotype Ile/Val can be involved in HPV-6 pathogenesis. In addition, we introduced a new genotype (Glu983Gly) at the EP300 bromodomain site, which requires further investigation.

Ahmad Hamta, Maliheh Hosseinpour, Majid Komijani,
Volume 15, Issue 4 (7-2021)
Abstract

Background and objectives: Breast cancer is the leading cause of death in women. Cytokines regulate the intensity and continuity of immune response by balancing cell-mediated immunity and humoral responses. This study aimed to investigate the relationship between two polymorphisms of the interleukin-16 (IL-16) gene and risk of breast cancer.
Methods: Blood samples were collected from 80 breast cancer patients and 80 healthy individuals. Polymorphisms rs11556218 T/G and rs4072111 C/T were investigated by polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR). Then, genotype and allele frequency distributions were evaluated in each group using the SPSS software (version 24).
Results: The frequency of genotype rs11556218 differed significantly between the patients and controls (P=0.007). The TG genotype (odds ratio [OR]= 2.471, 95% confidence intervals [CI]: 1.229-4.965, P= 0.001) and total TG+GG genotypes (OR= 3.095, 95% CI: 1.624-5.899, P= 0.001) had a significant relationship with increased risk for breast cancer. The allele and genotype frequencies of rs4072111 C/T polymorphism did not differ significantly between the patients and controls.
Conclusion: Our findings suggest that the rs11556218 T/G polymorphism of the IL-16 gene may be associated with susceptibility to breast cancer.


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