جستجوی مقالات مرتبط با کلیدواژه « پژواکین » در نشریات گروه « پزشکی »

Hearing loss is a common disorder affecting millions of individuals worldwide with opproximately 1 in 1000 newborns. A novel gene, DFNB59 encods Pejvakin has been recently shown to cause neural deafness. The aim of this study was to determine the frequency of DFNB59 gene mutations in 93 deaf pupils in Sistan & Baluchestan province. We investigated the frequency of DFNB59 gene mutations in the coding regions (exons 2-7) of the gene.DNA was extracted following the standard phenol chloroform procedure, the frequency of DFNB59 gene mutations was investigated using PCR-SSCP /HA strategy. No pathogenic variant was detected in samples studied. However, one polymorphism including 793C>G was determined in 3 of 93 (3.2%) subject examined. The results of this study showed no association between DFNB59 gene mutations and hearing loss in Sistan va Baluchestan province. [ZJRMS, 12(3):19-23]

Hearing impairment (HI) is the most prevalent Neurosensory disorder which is heterogenous and can also occur due to environmental causes. The majority of hearing deficiencies are of genetic origin affecting about 60% of the HI cases. A novel gene DFNB59 encodes pejvakin has been recently shown to cause deafness. This study aims to determine the frequency of DFNB59 gene mutations in coding region the gene in Bushehr province. In this descriptive experimental study, we investigated the presence of DFNB59 gene mutations in Exons (2-7) of the gene in 80 deaf subjects. DNA was extracted using standard phenol –chloroform method. The screening of gene mutations was performed by PCR-SSCP/HA procedure. Finally, the possible mutations were confirmed by direct sequencing. In all, 9 polymorphisms 793C>G were found in 80 non-syndromic, genetic hearing loss subjects studied. However no DFNB59 gene mutation was identified. We conclude that the association of DFNB59 gene mutations with hearing loss is very low in samples studies

Introduction &

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.

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 deh1ive-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 PCR-SSCP/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.

Hearing loss is a heterogeneous disorder and may be due to genetic or environmental cause. A novel gene, DFNB59 encods pejvakin has been very recently shown to cause neural deafness. This study aims to determine the frequency of DFNB59 gene mutations in exon 2 and 4 in 100 patients negative for GJB2 mutations in Chaharmahal va Bakhtiari province. In this descriptive-lab based study we investigated the frequency of DFNB59 gene mutations in exon 2 and 4 of the gene. DNA was extracted from all patients following the standard phenol chloroform procedure. The two mutations T54I and R183W was determined using PCR-RFLP procedure. The AF1III restriction enzyme digested the related restriction site in all of the 100 samples examined. Also, SsiI restriction site were digested in all of the 100 samples. These data indicate that no T54I and R183W mutations were not detected in deaf individuals tested. Based on 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. However, we examined only 2 DFNB59 mutations in 100 patients and to determine the role of this gene in developing deafness the entire coding region and promoter of the gene need to be investigated in more samples.