Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her child...

Multiple endocrine neoplasia 2a (MEN2a) syndrome is one of the rare genetic disorder where prophylactic thyroidectomy is recommended for RET mutation carriers due to increased risk for developing MTC during lifetime. We present a case report of prophylactic total thyroidectomy in a family based on genetic screening that proved to be MTC on histopathology. This is the first reported case in Indi...

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel responsible for the disease 2019 (COVID-19) pandemic. Chains of infections starting from various countries worldwide seeded outbreak COVID-19 in Athens, capital city Greece. A full-genome analysis isolates Athens' hospitals and other healthcare providers revealed variety SARS-CoV-2 that initiated pandemic before lockdown pa...

the tp53 gene is one of the most frequently mutated genes amongst human malignancies, particularly tp53 codon 72 polymorphism. furthermore, an association between the tp53 codon 72 variants and prostate cancer has been reported in several studies. although some studies have indicated an association between the tp53 arg/arg variant and an increased risk for prostate cancer, other studies have sh...

background: in prostate cancer, mutated p53 alleles typically contain missense single-base substitution in codon 72 that resides within exons 5-8. stable p53 proteins in tumor cell nuclei have been associated with malignancy. a role of p53 is the regulation of drug transporters like abcc1 (mrp1) by an effect on promoter region.objectives: the objective of this study was to identify association ...

The genetic code is degenerate. Each amino acid is encoded by up to six synonymous codons; the choice between these codons influences gene expression. Here, we show that in coding sequences, once a particular codon has been used, subsequent occurrences of the same amino acid do not use codons randomly, but favor codons that use the same tRNA. The effect is pronounced in rapidly induced genes, i...

aim : the propose of this study was to evaluate the probable correlation between exon and intron polymorphisms of p53 gene and their association with clinicopathological aspects of gastritis. background : regarding to the decisive role of p53 in the development of a variety of human cancers, a comprehensive study concerning probable correlation between polymorphisms in the p53 intron and exon i...

tmrna (also known as ssra or 10sa rna) is so-named for its dual nature so that can function like trna and mrna. tmrna involved in a trans-translation reaction that truly is a kind of translational quality control system. this process contributes to the recycling of stalled translation complexes at the end of an mrna lacking a stop codon or at an internal mrna cluster of rare codons in a process...

  Abstract   Background: The polymorphic variants at codon 72 of the p53 gene, encoding either   proline or arginine at residue 72, produce marked change in the structure of p53.   From the evidence that the DNAmismatch repair system and p53 interact to maintain   genomic integrity, we hypothesized that the codon 72 variation may influence the   prevalence of microsatellite instability a featur...

Within Escherichia coli and other species, a clear codon bias exists among the 61 amino acid codons found within the population of mRNA molecules, and the level of cognate tRNA appears directly proportional to the frequency of codon usage. Given this situation, one would predict translational problems with an abundant mRNA species containing an excess of rare low tRNA codons. Such a situation m...