mediator complex subunit 12 (med12) is a part of the mediator complex, which is believed to regulate transcription. med12 is mutated at high frequency and with different mutation frequencies in uterine fibroids and breast fibroadenomas of different populations. this study aimed to analyze med12 mutations in senegalese population. med12 was sequenced in the tumoral tissues and blood samples of s...

background: familial mediterranean fever (fmf) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. methods: to evaluate clinical symptoms and common genetic mutations in southwestern iranian patients with fmf, 20 unrelated patients were enrolled in this study based on clinical criteria. a panel of 12 common mefv ...

ABSTRACTTuberculosis is an infectious disease which occurs widely in the world and becomes one of the top 10 causes of death worldwide. Mutations of the RpoB gene cause the resistance of Mycobacterium tuberculosis to rifampicin that contributes to the occurrence of MDR-TB. This study aimed to determine the pattern of rpoB gene polymorphisms in the MDR M. tuberculosis in Semarang, Indonesia. Mos...

absract gastric cancer is the fourth most common cancer and the second leading cause of cancer death. most cases are sporadic and only 10% of patients, show familial clustering. among these patients, 1 to 3 % have hereditary diffuse gastric cancer (hdgc), which is autosomal-dominant and present in younger ages. mutations in ecadherin gene cdh1 has been identified in 30 to 50% of patients. becau...

background and objectives: the aim of this study was to investigate the significance of multiple-mutations in the katg gene, predominant nucleotide changes and its correlation with high level of resistance to isoniazid in mycobacterium tuberculosis isolates that were randomly collected from sputa of 42 patients with primary and secondary active pulmonary tuberculosis from different geographic r...

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...

Objective: The Rifampicin resistance and susceptibility of Mycobacterium tuberculosis are caused by mutations in the 81-base pair region of the rpoB gene encoding the b-subunit of RNA polymerase. Methods: Isoniazid resistance of M. tuberculosis is related to mutations in inha , oxyR and ahpC genes which 30 to 90 percent of Isoniazid resistance is occurred in 3015 codons of kat...

The aim of this study was to investigate the frequency, location and type of rpoB gene mutations in Mycobacterium tuberculosis (MTB) collected from patients in the southern endemic region of Iran. Drug susceptibility testing was determined by using the BACTEC system and the center for diseases control’s (CDC) standard conventional proportional method. In 29 rifampicin-resistant MTB (85%) isolat...