Mediterranean fever gene analysis in the Azeri Turk population with familial mediterranean fever: evidence for new mutations associated with disease

Familial Mediterranean fever [FMF] is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among FMF patients in the Azeri Turk population in North-West of Iran. In this descriptive study, 130 FMF patients with Azeri Turk origin were screened for mutations in four exons [2, 3, 5 and10] of MEFV gene. Genomic DNA was extracted from whole blood and entered in ARMS-PCR and PCR-RFLP reactions. When cases were negative in ARMS-PCR and PCR-RFLP, the exons were amplified and subjected to direct sequencing. Our results showed that the most common mutations in this study population was M694V [40.19%] followed by E148Q [17.64%], V726A [13.72%], M680I [12.74%] and M694I [2.94%] mutations. Four new mutations including K618N, K716M, S614F and G136E were identified in our study. The prevalence of five common mutations in our study was highly similar to previous studies analysing the Mediterranean basin populations. Investigation by sequencing also revealed four new variants in the study population. The main genotype- phenotype correlation finding was the presence of M694V mutation in homozygote or compound heterozygote state in the patients with renal manifestations

Hepatitis B virus genotypes in Eastern Azerbaijan, Northwest Iran

The aim of this study was to investigate, for the first time, the genotype of hepatitis B virus [HBV] among hepatitis patients in Eastern Azerbaijan Province, Northwest Iran. A total of 100 HBV-infected patients were enrolled in this study. Among these, 40 samples were positive for both HBsAg and HBeAg, whereas 60 samples were HBsAg positive and HBe Agnegative. Patients' sera were subjected to DNA extraction and the genotype determined by PCR using type-specific primers. The results of genotyping revealed that genotype D was the only identified genotype in both acute and chronic patients in the study region. Analysis of sequencing results showed 98% - 99% homology with the previously reported HBV genotype D sequences. Genotype D was recognized as the predominant HBV genotype in the studied area. There was no significant relationship between genotype D of HBV and different types of infections

Cloning of Oct3/4 gene in embryonic stem cells

Embryonic stem cells [ESCs] are pluripotent, self-renewing cells. These cells can be used in applications such as cell therapy, drug discovery, disease modelling, and the study of cellular differentiation. In this experimental study embryonic stem cells cultured in the laboratory and were amplified. Total RNA was extracted from cells and converted to cDNA. The replication factor Oct3/4 gene was amplified by reverse transcription-polymerase chain reaction [RT-PCR] and cloned into the pTZ57R/T vector. Legated product had been transformed into susceptible bacteria and transformed bacteria were screened on a selective medium. Plasmids extracted from bacteria and enzyme digestion to confirm the sequencing was performed. Results of enzyme digestion were sequenced. Cloned gene can prepare a gene cassette to produce stem cells from somatic cell