Nilüfer ŞAHİN CALAPOĞLU, Mustafa CALAPOĞLU, Ahmet KARAGÜZEL

Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population

SüleymanDemirel Üniversitesi TIP FAKÜLTESİ DERGİSİ: 2005 Eylül; 12(3) Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population Nilufer Sahin-Calapoglu, Mustafa Calapoglu, Ahmet Karaguzel Özet Türk Populasyonundaki TMPRSS3 Genine Bağlı Non-Sendromik Resesif Işitme Kaybı Canlı doğumlarda yaklaşık 1/1000 sıklıkla görülen konjenital sağırlıkların %50.sinin temelinde genetik nedenler yatmaktadır. Non-sendromik işitme kayıpları kalıtım kalıpları baz alınarak sınıflandırıldıklarında, vakaların %80.inin otozomal resesif kalıtım sergilediği gözlenmektedir. Bu çalışmada non-sendromik otozomal resesif, prelingual işitme kaybına sahip ve yüksek oranda (%77) akraba evliliğinin görüldüğü 26 Türk ailede TMPRSS3 geni ile bağlantının varlığı araştırıldı. Bağlantı ve lod-score analizlerinden elde edilen verilerle 26 aileden altısında (%23) TMPRSS3 genine potansiyel bağlantı saptandı. TMPRSS3 geninin Türk populasyonundaki non-sendromik otozomal resesif sağırlığın başlıca nedenlerinden olabileceği gösterildi. Bu çalışma ile Türk ailelerde TMPRSS3 genine bağlantı ilk kez rapor edilmektedir. Anahtar kelimeler: Resesif işitme kaybı, TMPRSS3 geni Abstract Congenital deafness occurs in approximately 1 in 1000 live births and it is estimated that at least 50% of these cases are due to genetic cause. Non-syndromic deafness is classified according to its mode of inheritance and non-syndromic autosomal recessive deafness accounts for approximately 80% of congenital hereditary deafness case. In this study we present evidence for linkage to TMPRSS3 gene in 26 non-syndromic autosomal recessive prelingual hearing impaired Turkish families with high frequency of consanguinity. Linkage and lod-score data suggesting that 6 of 26 (23%) Turkish families showed potential linkage to TMPRSS3 gene. The findings imply that TMPRSS3 might be one of the major contributory genes to non-syndromic recessive prelingual deafness in Turkish population. Linkage to TMPRSS3 gene in Turkish patients is reported for the first time in this study.Recessive hearing loss, TMPRSS3 gene Key words:Recessive hearing loss, TMPRSS3 gene

Anahtar Kelimeler:

Resesif iþitme kaybý, TMPRSS3 geni

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