Volume 7, Issue 3 (Autumn 2006)                   jrehab 2006, 7(3): 0-0 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Kahrizi K, Sajjadi A, Mohseni M, Riaz-el Hosseini Y, Najm-Abadi H. GJB2 Mutations Screening in Autosomal Recessive Non-Syndrome Deaf Patients of Khouzestan Province. jrehab 2006; 7 (3)
URL: http://rehabilitationj.uswr.ac.ir/article-1-36-en.html
1- Genetic Research Center, University of Welfare and Rehabilitation Sciences, Tehran, Iran. , E-mail: hnajm@uswr.ac.ir
Abstract:   (13056 Views)

Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non-syndromic with autosomal recessive forms accounting for ~85% of the genetic load. To date, more than 100 locus estimated for this kind of deafness. Different genes have been reported to be involved, but mutations in the connexin 26 gene (Cx26) have been established as the basis of autosomal recessive non-syndromic hearing loss. The aim of this project is to study the prevalence of connexin 26 mutations.

Materials & Methods: In this study from the population that referred to welfare center of Khoozestan province for genetic counseling, 50 individual have been selected and getting 5-10 ml blood then after DNA extraction we analyzed quality of DNA by spectrophotometry. Mutation screening began by using Amplification Refractory Mutation System (ARMS) – Polymerase Chain Reaction (PCR) for detection of 35delG and then we analyzed all samples excluding 35delG homozygote by Denaturation High Polymorphic liquid Chromatography (DHPLC) and Direct Sequencing.

Results: We screened 100 chromosomes (50 patients) for GJB2 mutations. Thirteen (13%) carry GJB2 mutations including 35delG, R184P, R32H, R127H, 300del2 (AT). Among them, 35delG has the highest frequency (61%). Polymorphism V153I was found in three chromosomes and also polymorphism V52V was found in family.

Conclusion: According to our results, other loci and genes may be the major responsible for non-syndromic deafness in this population.

Full-Text [PDF 275 kb]   (2389 Downloads)    
Type of Study: Original | Subject: General
Received: 4/08/2007 | Accepted: 11/10/2015 | Published: 11/10/2015

Add your comments about this article : Your username or Email:
CAPTCHA

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2024 CC BY-NC 4.0 | Archives of Rehabilitation

Designed & Developed by : Yektaweb