TÜRKIYE’DE MANISA VE YÖRESINDE AKRABA EVLILIĞI YAPMIŞ AILELERDE GJB2 (CONNEXIN 26) GENINDEKI35DEL MUTASYONUNUN ARAŞTIRILMASI

Öz

Günümüze kadar tüm popülasyonlarda yapılan çalışmalarda Connexin 26 (GJB2 ) genindeki mutasyonlar non sendromik otozomal resesif konjenital işitme kaybında önemli bir yere sahiptir. Connexin 26 geni ve mutasyon tipleriyle ilişkilendirilen işitme kaybını belirlemek için Türkiye’de Manisa ve yöresinde yaşayan 8 nonsendromik işitme kayıplı birey, akraba evliliği yapmış 14 aile (evli çiftler) çalışmaya alınmıştır. 35delG mutasyonları polimeraz zincir reaksiyonu (PZR) ve kompetitif amplifikasyon refrakter mutasyon sistemi (C-ARMS) ile belirlenmiştir. Yedi hasta 35delG mutasyonu için homozigot, bir hasta heterozigot olarak saptanmıştır. Sonuçlarımız, Türkiye’de Manisa ve çevresindeki hastalarda non sendromik konjenital işitme kaybına Connexin 26 genindeki 35delG mutasyonunun neden olduğunu ortaya koymuştur

Anahtar Kelimeler

• 35 delG, connexin 26, GBJ2, otosomal resesif non-sendromik işitme kaybı

INVESTIGATION OF THE 35delG MUTATION IN THE GJB2 (CONNEXIN 26) GENE-RELATED FAMILY IN MANISA AND VICINITY IN TURKEY

Öz

Mutations in connexin 26 gene (GJB2) lead to a significant proportion of non-syndromic autosomal recessive congenital hearing loss in all populations studied so far. Eight patients with nonsyndromic hearing loss out of 14 related family (marriage couple) were screened to determine hearing loss attributed to connexin 26 gene and the types of mutations living in Manisa and vicinity, Turkey. The 35delG mutations were detected by Polymerase Chain Reaction (PCR) with Competitive Amplification Refractory Mutation System (CARMS). Seven patients were detected as homozygous for the 35delG mutation and one patient detected as heterozygous. Our results indicate that 35delG mutation in the connexin 26 gene was the cause of non-syndromic congenital hearing loss of the patients in Manisa and vicinity in Turkey

Anahtar Kelimeler

• 35delG, connexin 26, GJB2 , autosomal recessive non-syndromic congenital hearing loss

Kaynakça

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