Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population
Abstract
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
Keywords
References
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Details
Primary Language
English
Subjects
-
Journal Section
-
Publication Date
April 9, 2009
Submission Date
April 8, 2009
Acceptance Date
-
Published in Issue
Year 2005 Volume: 12 Number: 3
APA
Şahin Calapoğlu, N., Calapoğlu, M., & Karagüzel, A. (2009). Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Medical Journal of Süleyman Demirel University, 12(3), 31-35. https://doi.org/10.17343/sdutfd.97245
AMA
1.Şahin Calapoğlu N, Calapoğlu M, Karagüzel A. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Med J SDU. 2009;12(3):31-35. doi:10.17343/sdutfd.97245
Chicago
Şahin Calapoğlu, Nilüfer, Mustafa Calapoğlu, and Ahmet Karagüzel. 2009. “Non-Syndromic Recessive Hearing Loss Linkaged TMPRSS3 Gene in the Turkish Population”. Medical Journal of Süleyman Demirel University 12 (3): 31-35. https://doi.org/10.17343/sdutfd.97245.
EndNote
Şahin Calapoğlu N, Calapoğlu M, Karagüzel A (April 1, 2009) Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Medical Journal of Süleyman Demirel University 12 3 31–35.
IEEE
[1]N. Şahin Calapoğlu, M. Calapoğlu, and A. Karagüzel, “Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population”, Med J SDU, vol. 12, no. 3, pp. 31–35, Apr. 2009, doi: 10.17343/sdutfd.97245.
ISNAD
Şahin Calapoğlu, Nilüfer - Calapoğlu, Mustafa - Karagüzel, Ahmet. “Non-Syndromic Recessive Hearing Loss Linkaged TMPRSS3 Gene in the Turkish Population”. Medical Journal of Süleyman Demirel University 12/3 (April 1, 2009): 31-35. https://doi.org/10.17343/sdutfd.97245.
JAMA
1.Şahin Calapoğlu N, Calapoğlu M, Karagüzel A. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Med J SDU. 2009;12:31–35.
MLA
Şahin Calapoğlu, Nilüfer, et al. “Non-Syndromic Recessive Hearing Loss Linkaged TMPRSS3 Gene in the Turkish Population”. Medical Journal of Süleyman Demirel University, vol. 12, no. 3, Apr. 2009, pp. 31-35, doi:10.17343/sdutfd.97245.
Vancouver
1.Nilüfer Şahin Calapoğlu, Mustafa Calapoğlu, Ahmet Karagüzel. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Med J SDU. 2009 Apr. 1;12(3):31-5. doi:10.17343/sdutfd.97245