[Study of deafness associated with DFNB59 gene [Pejvakin] mutation in Fars province]

Hearing loss is the most frequent sensory disorder affecting 1 in 500 neonates with more than 50% of inherited cases. This trait is a very heterogeneous disorder and happens due to genetic or environmental causes or both. More than 46 genes may be involved in non-syndromic hearing loss. Recently, DFNB 59 gene has been shown to cause deafness in some Iranian populations. The aim of this study was to determine the role of DFNB 59 gene mutations causing deafness in a group of 130 deaf pupils in Fars province. This descriptive-laboratory based study investigated the frequency of DFNB59 gene mutations using PCR-SSCP/HA strategy. Two different DFNB59 polymorphism including 874G>A and 793C>G were found in 1 and 9 of 130 patients studied respectively. However, no DFNB59 mutation was identified. The results of this study shows that the association of DFNB59 mutations with deafness in Fars province is very low

[DFNB59 gene mutations and its association with deafness in schoolchildren in kohgilooyeh and Boyerahmad province]

Hearing loss is a common disease affecting millions of people worldwide. Hearing loss can be caused due to genetic or environmental factors or even both. The genetic of hearing defect is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. A newly identified gene [DFNB59] has been shown to cause deafness in some populations. Here we report mutation analysis for DFNB59 gene in 88 genetic non-syndromic hearing loss subjects. In this descriptive-lab based study which was conducted at the Cellular and Molecular Research Center of Shahrekord University of Medical Sciences, DNA was extracted from the peripheral blood samples using standard phenol chloroform procedure. Mutation analysis for DFNB59 gene was performed using PCR-SSCP/HA protocol. The suspected DFNB59 which was detected as shifted bands on PAGE were then confirmed by direct sequencing strategy. Two DFNB59 polymorphisms including c.793C>G and c.793C>T were detected in 8 and 1 deaf subjects respectively. We conclude that there is no association between DFNB59 mutations and deafness in the studied patients in the region

[Study of LDL receptor gene mutations in patients with familial hypercholesterolemia in Chaharmahal va Bakhtiari province]

Familial hypercholesterolemia is an autosomal dominant inherited disorder, characterized by increased level of low-density lipoprotein cholesterol and lipid accumulation in tendons and arteries. It can cause premature atherosclerosis and increased risk of coronary heart disease [CHD]. Familial hypercholesterolemia is caused mainly by mutations in low-density lipoprotein receptor [LDLR] gene. The aim of this study was to analyze the LDLR gene mutations in a group of patients from Chaharmahal va Bakhtiari province. In this descriptive-lab based study, 57 suspected FH patients were screened for mutations in promoter and exons 1,3,5,11,13,15,16,17 and 18 of LDLR gene using PCR-SSCP strategy. Two different LDLR gene variations, including heterozygote mutation 283T>A and polymorphism 1959T>C, were identified in 1 and 9 FH Families studied, respectively. We conclude that LDLR gene mutation may not be the major cause of FH in the population studied and the cause of FH in Chaharmahal va Bakhtiari province remains to be detected in other loci or genes

[DFNB59 gene mutations screening in non syndromic deaf subjects in Chaharmahal va Bakhtiari province]

The incidence of pre-lingual deafness is about 1 in 1000 neonates from which more than 60% of cases are inherited. Deafness is a heterogeneous disorder and may be due to genetic or environmental cause or both. Mutations in the DFNB59 gene encoding pejvakin protein has been very recently shown to cause neural deafness. In the present study, we have conducted type and frequency of the DFNB59 gene mutations in a cohort of 100 non syndromic deaf subjects in Chaharmahal va Bakhtiari province. In this descriptive-lab based study we investigated the frequency of DFNB59 gene mutations in the entire coding exons of the gene. DNA was extracted from the peripheral blood samples following the standard phenol chloroform procedure. DFNB59 gene mutations were investigated using PCR-SSCP/ Heteroduplex Analysis [HA]. The results of PCRSSCP/HA were confirmed by sequencing of exon 7, nested PCR and PCR-RFLP of 3 known DFNB59 mutations. Altogether 3 different gene polymorphisms [793C>G, 793C>T and 874G>A] and one mutation [988delG] were detected in 7, 5, 2 and 1 subjects respectively. Based on our data from the present study and previous study, we conclude that DFNB59 gene mutations have a very low contribution to deafness in patients in Chaharmahal va Bakhtiari province and are not of great clinical importance in this region

Detection of mutations in exons 5-8 of the P53 gene in gastric cancer samples using PCR-SSCP in Chaharmahal va Bakhtiari province, 2006-2007

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

[Determination of effective structures of antibodies in binding to DNA using artificial neural networks]

The accumulation of DNA-antibody immune complexes in kidneys is associated with SLE in human and lupus in mice. The level of serum of anti-DNA antibodies is also directly related to the disease severity. Determination of structures that confers DNA specificity in these antibodies can help in designing new therapeutic strategies. In this study, computer simulation and artificial neural network [ANN] has been utilized for the first time to determine effective structure of anti-DNA antibodies in binding to DNA. VH CDR3, FR3 and CDR2 were designated the most effective regions in antibodies that bind to DNA, using an educated neural network. We have also shown that the presence of Arg in position 104, 109 and 113 of CDR3, position 63 and 64 of CDR2 and position 90 of FR3, enhances the DNA specificity of antibodies. A part of our result confirms the previous laboratory works, and the other part introduces novel structures that may be important in DNA binding. This study shows the potency of logic networks in solving medical dilemmas