[Investigation of interferon-gamma receptor-1 polymorphism in Iranian patients affected with pulmonary tuberculosis]

Tuberculosis is one of the most common infectious diseases in the world. In recent years, genetically approach has been developed. One of the interesting gene for investigator is IFN- gamma R1. In this study we determind susceptibility to tuberculosis with polymorphism of IFN- gamma R1 gene. Fifthly patients with smear positive tuberculosis have been chosen randomly. They were matched with 54 healthy controls with no history of TB. Polymorphism at 395 codon of IFN- gamma R1 gene was detected with Newport method. Mean age of patients and control were 55 13.5 years respectively. Demographic characteristic had no +/- 20 and 53 +/- difference within two groups. One patient in case group had heterozygote mutation at IFN- gamma R1 gene. In control group there were no mutations. Genetically susceptibility to TB was not seen in 395 colon of IFN- gamma R1 in Iranian TB sample and polymorphism of this loci has occur in 2% of TB patients and 0.96% of total study population

Role of mitochondria in ataxia-telangiectasia: investigation of mitochondrial deletions and haplogroups

Ataxia-Telangiectasia [AT] is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA [mtDNA] has the only non-coding regions at the displacement loop [D-loop] region that contains two hypervariable segments [HVS-I and HVS-II] with high polymorphism. We investigated mt-DNA deletions and haplogroups in AT patients. In this study, 24 Iranian patients suffering from AT and 100 normal controls were examined. mt-DNA was extracted from whole blood and examined by 6 primers for existence of mitochondrial deletions. We also amplified and sequenced the mtDNA HVS-I by standard sequencing techniques. mtDNA deletions were observed in 54.1% [13/24] of patients [8.9 kb deletion in all samples, 5.0 kb in one and 7.5 kb in two patients], representing mtDNA damage which may be due to oxidative stress in mitochondria. Our results showed that there is no association between mtDNA haplogroups and AT. This data may indicate involvement of mitochondrial damage in the pathogenesis of AT