Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province
| Author | Anoosh Naghavi | en |
| Author | K Nishimura | en |
| Author | K Kahrizi | en |
| Author | Y Riazalhosseini | en |
| Author | H Suraki Aliabadib | en |
| Author | N Mahdieh | en |
| Author | J Smith Richard | en |
| Author | h najm ABADI | en |
| Issued Date | 2005-06-30 | en |
| Abstract | Background: Hereditary hearing impairment is a heterogeneous disability showing different pattern of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic non-syndromic deafness in various ethnic groups. Because population-specific differences are not uncommon, in this study we sought to determine the prevalence and spectrum of GJB2 mutations in two isolated ethnic groups of Balooch and Sistani in southeastern Iran. Methods and Materials: In this study in 2004 2005 we analyzed one hundred families belonging to the Balooch and Sistani populations suffering from autosomal recessive non-syndromic hearing impairment. Mutation screening of GJB2 was performed by an allele-specific PCR assay to detect the 35delG mutation. The negative or heterozygous cases for the 35delG mutation were screened by denaturing high performance liquid chromatography (DHPLC) and sequencing analysis. Results: 35delG mutation which is the most common GJB2 mutation in the white population as well as other parts of Iran was not found in any of the patients. We identified GJB2 mutant alleles in 18 chromosomes (9%) including R127H, K122I, W24X, 167delT and M93I. Among them W24X had the highest frequency. Conclusions: Based on these data, the hot-spot mutations in the GJB2 gene in the Balooch population with non-syndromic hearing loss may be different from other ethnic groups in Iran. | en |
| DOI | https://doi.org/ | en |
| Keyword | Deafness | en |
| Keyword | GJB2 | en |
| Keyword | DHPLC | en |
| Publisher | Brieflands | en |
| Title | Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province | en |
| Type | Research Article | en |
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