ABSTRACT
Gastric cancer is the second cause of cancer death world wide. Genetic factors including oncogens and tumor suppressor genes are always contributed in progression of this cancer. The P53 tumor suppressor gene has a broad role in the cell such as programmed cell death and stop cell replicating damaged DNA. Mutations in the P53 gene, which are frequently seen in human gastric cancer, impair its tumor suppression function. The aim of this study was to determine the P53 gene mutations in gastric cancer specimens in Chaharmahal va Bakhtiari Province. In this descriptive-lab based study, we investigated the P53 gene mutations in exons 5-8 in 38 paraffin embedded gastric cancer specimens. DNA was extracted following the standard phenol chloroform protocol. The P53 gene mutations were determined using PCR-SSCP procedure. Band shifts were detected in all positive controls examined. However, no shifted band was detected in samples from gastric cancer patients tested. The results of this study demonstrated that association between P53 gene mutations and gastric cancer is very low in Chaharmahal va Bakhtiari province. However, we have examined a limited number of 38 gastric samples and more samples are needed to be investigated to unravel the contribution of P53 gene mutations leading to gastric cancer in this province
Subject(s)
Mutation , Genes, p53 , Genes, Tumor Suppressor , Oncogenes , Polymerase Chain ReactionABSTRACT
Hearing loss is the most common sensory disorder in human and has a profound economic and social impact in the modern world. The etiology of deafness can be due to genetic or non-genetic causes in origin. Genetics etiology of hearing loss is classified into syndromic and nonsyndromic. The aim of this study was to determine the etiology of deafness in deaf students in Chaharmahal va Bakhtiari province, Iran. Altogether, 265 patients with mild to profound hearing loss were contributed in this descriptive study. The subjects were deaf pupils from the schools of Chaharmahal va Bakhtiari province. Age of the students was between 6 and 22 years. Medical history, pedigree information and demographic data were collected using a questionnaire. Each patient underwent general and otoscopic examinations and also pure-tone audiometery. Otoacoustic emissions, as well as auditory brainstem response testing were performed in patients suspected to neural hearing loss. Consanguineous marriages were detected in 67.2% of deaf families, from which first cousins marriage was the most common with the rate of 78.1% of overall consanguinity. Our study revealed that up to 98.8% of genetic deafness cases were in autosomal recessive mode. We found sensorineural hearing loss as a predominant type of deafness in 97.8% of the population studied. Moreover, hearing loss with genetic in origin was found as the most frequent deafness etiology with a rate of 60.8% and then acquired and idiopathic hearing loss are in next step, respectively. We found syndromic etiology in 4.2% of the students and ophthalmic problems were the most dysfunction accompanied with hearing loss. This data highlight the importance of consanguine marriage in the studied population. We found a very high rate [67.2%] of consanguine marriage, which can be the main cause of congenital deafness