aim :  to evaluate the association of dnmt1 and mgmt amino acid substitution polymorphisms and colorectal cancer in iranian population. background : the mgmt and dnmt1 are two important methyltransferase enzymes. amino acid substitution polymorphisms in mgmt and dnmt1 genes may be associated with the genetic susceptibility to sporadic colorectal cancer. patients and methods : we assessed eight ...

objectives analysis of ns5a polymorphisms in hcv genotype 1b pre-treatment serum samples from estonian patients and their effect on the treatment response. patients and methods twenty-nine complete ns5a sequences obtained from patients with chronic hcv-1b infection who had received combined therapy with pegifnα-2a/rbv were analyzed and compared with the prototype strain hcv-j. twelve patients a...

Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid substitutions in protein-coding regions. Each substitution has the potential to affect protein function. SIFT (Sorting Intolerant From Tolerant) is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study. We hav...

conclusions there is an as yet unexplained association between hcv and host parameters with unknown mechanisms in patients with chronic hcv infection. the assessments of core aa 70 substitution and polymorphisms near the ifnl3 gene could offer promising steps to improve the management of patients with hcv. background molecular studies have demonstrated that the hepatitis c virus (hcv) genotype ...

Aims: Polymorphisms of the β-adrenergic receptor, the frequency of which may differ in ethnic groups, alters β-receptor function. The aim of this study was to elucidate the frequency of β1 and β2-adrenergic receptor polymorphisms in healthy Greeks and to compare with those of Caucasian European (Euro) and African American (AA) origin. Methods: Ninetynine individuals with a median age of 63 with...

A Malaysian family with congenital insensitivity to pain with anhydrosis was diagnosed based on clinical symptoms of chronic ulcers, joint deformities, malunited fractures, anhydrosis, and learning disabilities. We detected a compound heterozygous mutation in exon 16: V709L from the mother and G718S from the father. Two novel mutations were identified: at amino acid 709, a change of G to C at n...

Most Mendelian diseases studied to date arise from mutations that lead to a single amino acid change in an encoded protein. An increasing number of complex diseases have also been associated with amino acid-changing single-nucleotide polymorphisms (coding SNPs, cSNPs), suggesting potential similarities between Mendelian and complex diseases at the molecular level. Here, we use two different evo...