Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey.
Turk J Pediatr
; 47(3): 213-21, 2005.
Article
en En
| MEDLINE
| ID: mdl-16250304
ABSTRACT
Mutations in the GJB2 gene have been shown to be the major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found to be the most frequent mutation among Caucasians. In this study, we performed haplotype analysis of two large families with autosomal recessive non-syndromic hearing loss (totally 33 affected, 37 unaffected) from Trabzon (a city from the Eastern Black Sea region) by using polymorphic markers close to the 35delG mutation region, and identified a common haplotype, "2-6-4". The frequency of the mutant chromosomes having the 2-6-4 haplotype was compared between the Eastern Black Sea region and the other regions of Turkey and the difference was found to be significant (chi squared = 5.13/df = 1/p = 0.023). Also, when the frequency of mutant and wild type chromosomes having the 2-6-4 haplotype was compared in the Eastern Black Sea region, a statistically significant difference was observed in the mutant chromosomes (chi squared = 7.46/df = 1/p < or = 0.01). The results of this study demonstrate that the ancestral haplotype of the chromosomes bearing 35delG mutation in the Eastern Black Sea region is "2-6-4".
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Conexinas
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Turk J Pediatr
Año:
2005
Tipo del documento:
Article
País de afiliación:
Turquía