نتایج جستجو برای: single nucleotide poly morphism
تعداد نتایج: 1025175 فیلتر نتایج به سال:
It has been shown earlier that the DNA double helix is opened due to a prolonged contact of the DNA molecule with the surface of the mercury electrode. At neutral pH, the opening process is relatively slow (around 100 s), and it is limited to potentials close to -1.2 V (against SCE). The opening of the double helix has been explained by strains in the DNA molecule due to strong repulsion of the...
Submit Manuscript | http://medcraveonline.com Abbreviations: PCa: Prostate Carcinoma; CRPC: Castrationresistant Prostate Carcinoma; MMR: Mismatch Repair; ADT: Androgen-deprivation Therapy; OS: Overall Survival; NER: Nucleotide Excision Repair; BER: Base Excision Repair; HDR: Homology Directed Repair; HR: Homologous Recombination; DDR: DNA Damage Response; NHEJ: Non-homologous End Joining; SSB: ...
this study was conducted in order to investigate the association between the single nucleotide polymorphism (snp) rs2305957 g/a and recurrent pregnancy loss (rpl) in a group of palestinian women residing in gaza strip. a retrospective case-control study was carried out during the period of may to august 2015. a total of 380 females including 190 recurrent pregnancy loss (rpl) patients and 190 c...
objective: although the etiology of schizophrenia is unknown, it has a significant genetic component. a number of studies have indicated that neuregulin-1 (nrg1) gene may play a role in the pathogenesis of schizophrenia. in this study, we examined whether the rs2439272 of nrg1 is associated with schizophrenia and its negative symptoms in an iranian population. method: rs2439272 was genotype...
purpose: neuromyelitis opitca (nmo) is an autoimmune disease that relates to deposition of anti-aquaporin-4 (aqp4) igg in the central nervous system (cns). however, called seronegative nmo when patients are negative for aqp4 antibody. nevertheless, nmo is most probably an antibody mediated disease. the aim of this study was to assess the association between seronegative nmo disease and variatio...
the rs2476601 (r620w, c1858t) polymorphism in ptpn22 gene has been repeatedly reported to be associated with rheumatoid arthritis (ra). the rs 2476601 is widely suggested for predictive testing and risk assessment for ra. the aim of this study was to test the possible association of this snp with ra in iranian population.a total of 872 samples (405 confirmed ra patients and 467 healthy controls...
mannose-binding lectin (mbl) is a ca⁺² -dependent collagenous lectin, that is produced by liver and mediates innate immune responses by opsonization of pathogens. the serum level of mbl varies widely among healthy individuals, ranging from 0.05 µg/ml (or lower) to over 5 µg/ml, mainly depending on genetic variation. this study has examined promoter and exon 1 of mbl2 genotype among 117 iranian ...
A novel primer designed to improve the specificity of PCR amplification, called the annealing control primer (ACP), comprises a tripartite structure with a polydeoxyinosine [poly(dI)] linker between the 3' end target core sequence and the 5' end nontarget universal sequence. We show that this ACP linker prevents annealing of the 5' end nontarget sequence to the template and facilitates primer h...
although the phenotypic IEF analysis was in agreement with her diminished pulmonary function. Geno-typing for S and Z alleles has become a routine laboratory test. However, it is important to realize that these tests might give misleading results, as shown in this case. One should always be aware of the possible presence of alleles such as M Heerlen if a standard genotypic analysis is not in ag...
The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism. MTHFR catalyses NADPH-linked reduction of N 5,10-methylene-tetrahydrofolate to N 5-methylene tetrahydrofolate. The MTHFR gene exhibits 2 common genetic polymorphisms (C677T and A1298C). The MTHFR 677 C to T substitution converts alanine to a valine residue, resulting in a thermolabile enzyme [1]. A red...
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