Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital scree...

Beta-thalassemia is a genetic disorder caused by mutations in the beta-globin gene. Triplex-forming oligonucleotides and triplex-forming peptide nucleic acids (PNAs) have been shown to stimulate recombination in mammalian cells via site-specific binding and creation of altered helical structures that provoke DNA repair. However, the use of these molecules for gene targeting requires homopurine ...

introduction: recent molecular studies on iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. we detected and explained the common mutations in north-western iran previously and detection of the ra...

Statistical analyses of DNA sequences of globin genes (beta A, beta C, and gamma) from goat and sheep (including new sequence information for the second intron of sheep beta A and gamma, kindly provided by A. Davis and A. W. Nienhuis) indicate that the rates of nonsynonymous substitution in these genes have been greatly accelerated following the gene duplication separating gamma and the ancesto...

We have prepared and isolated the peptide fragments coded for by the three exons of the human beta-globin gene, using the arginine-specific protease clostripain (EC 3.4.22.8). The region encoded by the central exon (amino acid residues 31-104) contains an arginine at position 40. This site was less susceptible to cleavage than the two sites that correspond to the exon-intron boundaries, and the...

Controls that act at both transcriptional and posttranscriptional levels assure that globin genes are highly expressed in developing erythroid cells. The extraordinary stabilities of alpha- and beta-globin mRNAs permit globin proteins to accumulate to substantial levels in these cells, even in the face of physiologic transcriptional silencing. Structural features that determine alpha-globin mRN...

Transcripts of the rat calcitonin/calcitonin gene-related peptide (CGRP) gene are alternatively spliced in a tissue-specific manner resulting in the production of calcitonin mRNA and peptide in thyroid C cells and CGRP mRNA and peptide in neurons. Transfection studies using calcitonin and chimaeric human beta-globin/calcitonin exon minigene constructs showed that the splice acceptor and exon sp...

The in vitro interaction of recombinant hnRNP A1 with purified snRNPs and with pre-mRNAs was investigated. We show that protein A1 can stably bind U2 and U4 snRNP but not U1. Oligo-RNAse H cleavage of U2 nucleotides involved in base pairing with the branch site, totally eliminates the A1-U2 interaction. RNase T1 protection and immunoprecipitation experiments demonstrate that recombinant protein...

beta thalassemia is the  most common autosomal recessive disorder. the present study reports a rare β globin gene mutation, hbb: c.180g>a: codon 59 (aag/aaa), in a patient from gilan province, northern iran. nucleotide sequencing of amplified dna belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a g>a conversion at the third position of codon 59 o...

beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in iran. aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in iran, the rest are rare or unknown. in this study six mutations of the codon ivsi-130(g-c), fr16 (-c), codon35 (-c), fr23/24(-g), codon8 (+g) and codon 20 (gtg-gag) were recognized and added to spectrom of beta globin ...