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Analysis of CABP2 c.637+1G>T Mutation in Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss
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AR Salehi Chaleshtori   , F Fattahi , MA Tabatabaiefar , A Hoseinipour , HR Salehi Chaleshtori , F Rezaian , M Hashemzadeh Chaleshtori * |
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Abstract: (7377 Views) |
BACKGROUND AND OBJECTIVE: Congenital hearing loss is the most common sensorineural defect in human. The most common genetic mutations in this disease are GJB2 mutations which are followed by SLC26A4 mutations. Following a report for the first time in the world insist on CABP2 gene interference in hearing loss production, the present study was launched to analyze this mutation in Iranian patients with hereditary hearing loss.
METHODS: This is a cross sectional study. Among samples with autosomal recessive familial hearing loss pattern, regarding pedigree and audiometric data 253 patients with moderate to profound hearing loss were selected and studied. The mutation c. 637+1G>T was investigated using PCR-RFLP method.
FINDINGS: PCR-RFLP findings revealed that c.637+1G>T mutation was absent in the deaf subjects with hereditary moderate to profound hearing loss in analyzed provinces.
CONCLUSION: The mutation c.637+1G>T in CABP2 gene does not play any role in the investigated Iranian subjects with hereditary hearing loss.
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| Keywords: Non-syndromic hearing loss, PCR-RFLP, CABP2, Iranian families. |
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Full-Text [PDF 369 kb]
(3209 Downloads)
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Type of Study: Research |
Subject:
Biochemical
Accepted: 2014/06/7 | Published: 2014/06/7
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