Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...

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...

Background and Aims: lamivudine is amongst the antiviral for drug chronic hepatitis B treatment. During therapy with lamivudine, variants may emerge with YMDD mutation in the reverse transcriptase (RT) region of polymerase gene. This mutation might have a role in drug resistant for HBV. Materials and Methods: HBV DNA extraction from serum sample of 88 patients, were subjected to nested PCR for ...

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...

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

idiopathic hypogonadotropic hypogonadism (ihh) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (gnrh) leading to absence or incomplete sexual maturation. one of the disorders leading to ihh is kallmann syndrome which is characterized by gnrh deficiency with anosmia or hyposmia. this disorder generally occurs as a hereditary syndrome with x-linked recessive inhe...