background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

BACKGROUND β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manif...

BACKGROUND Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta-thalassemia intermedia. OBJECTIVE This study aimed to characterize the spectrum of beta-globin gene mutations in pediatric patients who were followed-up in Phramongkutklao Ho...

AIMS To identify a novel beta globin gene mutation found in a Chinese family, and also to assess its functional consequences. METHODS Haematological analysis was performed on all family members. The 23 common mutations of beta thalassaemia found in Chinese populations were detected by means of a reverse dot blot method. Direct DNA sequencing of polymerase chain reaction (PCR) amplified comple...

We characterized the molecular defect in a Swiss patient with a spontaneous beta-thalassemia mutation. Cloning and DNA sequencing of her beta-globin gene revealed a new frameshift mutation due to a single nucleotide deletion at codon 64 of the beta-globin gene. Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reacti...

Aims: To identify a novel b globin gene mutation found in a Chinese family, and also to assess its functional consequences. Methods: Haematological analysis was performed on all family members. The 23 common mutations of b thalassaemia found in Chinese populations were detected by means of a reverse dot blot method. Direct DNA sequencing of polymerase chain reaction (PCR) amplified complete b g...

five common tetracycline resistance genes tet(a), tet(b), tet(m), tet(o) and tet(s) were studied by polymerase chain reaction in 100 bacteria isolated from iranian fish farms. in the antibiogram test most of the bacteria were either intermediately or completely resistant to tetracycline. nine isolates out of 46 aeromonas spp. contained either tet(a/m/s) resistant genes as follows: tet(a) in a. ...