Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics
Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital s...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | fas |
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University of Social Welfare and Rehabilitation Sciences
2007-10-01
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| Series: | Journal of Rehabilitation |
| Subjects: | |
| Online Access: | http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-10-1-188&slc_lang=en&sid=1 |
| _version_ | 1831635541339144192 |
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| author | Kimia Kahrizi Niloufar Bazzaz-Zadegan Marzieh Mohseni Noushin Nik-Zaat Khadijeh Jalalvand Yaser Riaz-el Hosseini Yousef Shafeghati Sanaz Arzhangi Khalil Javan Hosein Najmabadi |
| author_facet | Kimia Kahrizi Niloufar Bazzaz-Zadegan Marzieh Mohseni Noushin Nik-Zaat Khadijeh Jalalvand Yaser Riaz-el Hosseini Yousef Shafeghati Sanaz Arzhangi Khalil Javan Hosein Najmabadi |
| author_sort | Kimia Kahrizi |
| collection | DOAJ |
| description | Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and deletion in a portion of GJB6 to the autosomal recessive non-syndromic deafness genetic load in Iran.
Materials & Methods: In this descriptive and cross – sectional study1605 probands from 1605 different nuclear families with autosomal recessive non-syndromic hearing loss were investigated. Hearing loss tests and clinical examination were done and 10 ml blood was drawn as DNA source. After study of 35delG mutation by ARMs PCR, negative or heterozygote individuals were sent to IOWA University for detection of other GJB2 mutations.
Results: GJB2-related deafness was found in 243 families (15.1%).
Conclusion: Varient geographic pattern for GJB2-related deafness has considerable results in Iran in comparable with other study in Europe and our neighboring countries and deletion in GJB6. [∆ (GJB6-D13S1830)] hasn't been detected in our studied population. |
| first_indexed | 2024-12-19T06:16:28Z |
| format | Article |
| id | doaj.art-e891523139e44bb594ba117ed736dacc |
| institution | Directory Open Access Journal |
| issn | 1607-2960 1607-2960 |
| language | fas |
| last_indexed | 2024-12-19T06:16:28Z |
| publishDate | 2007-10-01 |
| publisher | University of Social Welfare and Rehabilitation Sciences |
| record_format | Article |
| series | Journal of Rehabilitation |
| spelling | doaj.art-e891523139e44bb594ba117ed736dacc2022-12-21T20:32:51ZfasUniversity of Social Welfare and Rehabilitation SciencesJournal of Rehabilitation1607-29601607-29602007-10-01833541Prevalence Study of GJB2 Gene Mutations in Iranian EthnicsKimia Kahrizi0Niloufar Bazzaz-Zadegan1Marzieh Mohseni2Noushin Nik-Zaat3Khadijeh Jalalvand4Yaser Riaz-el Hosseini5Yousef Shafeghati6Sanaz Arzhangi7Khalil Javan8Hosein Najmabadi9 Genetics Research Center, University of Welfare and Rehabilitation Sciences, Tehran, Iran. Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and deletion in a portion of GJB6 to the autosomal recessive non-syndromic deafness genetic load in Iran. Materials & Methods: In this descriptive and cross – sectional study1605 probands from 1605 different nuclear families with autosomal recessive non-syndromic hearing loss were investigated. Hearing loss tests and clinical examination were done and 10 ml blood was drawn as DNA source. After study of 35delG mutation by ARMs PCR, negative or heterozygote individuals were sent to IOWA University for detection of other GJB2 mutations. Results: GJB2-related deafness was found in 243 families (15.1%). Conclusion: Varient geographic pattern for GJB2-related deafness has considerable results in Iran in comparable with other study in Europe and our neighboring countries and deletion in GJB6. [∆ (GJB6-D13S1830)] hasn't been detected in our studied population.http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-10-1-188&slc_lang=en&sid=1GJB2 mutations 35delG Iran Hereditary hearing loss Autosomal inheritance |
| spellingShingle | Kimia Kahrizi Niloufar Bazzaz-Zadegan Marzieh Mohseni Noushin Nik-Zaat Khadijeh Jalalvand Yaser Riaz-el Hosseini Yousef Shafeghati Sanaz Arzhangi Khalil Javan Hosein Najmabadi Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics Journal of Rehabilitation GJB2 mutations 35delG Iran Hereditary hearing loss Autosomal inheritance |
| title | Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics |
| title_full | Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics |
| title_fullStr | Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics |
| title_full_unstemmed | Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics |
| title_short | Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics |
| title_sort | prevalence study of gjb2 gene mutations in iranian ethnics |
| topic | GJB2 mutations 35delG Iran Hereditary hearing loss Autosomal inheritance |
| url | http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-10-1-188&slc_lang=en&sid=1 |
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