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Cx26 GENİNDE 35DELG MUTASYON ANALİZİNİN NON-SENDROMİK KALITSAL SAĞIRLIKTA TANI TESTİ OLARAK KULLANILMASI

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2002

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Application of 35delG mııtation analysis test for Cx26 gene for the diagnosis of non-syndro-mic hereditary deafness. In this study, we present the results of Cx26 gene sequence analysis data on the DNA isolates from 52 autosomal recessive non-syndromic sensorineural hearing loss patients. Cx 26 gene mutations were found in 27.8% of the tested alleles. 35delG mutation constituted to 79.3% of these mutations. For the carrier frequency of 35delG mutation in Tur-kish population, we screened 360 control DNA samples and found the prevalance rate of 0.84%. Our results showed that the 35delG mutation is less frequent in Turkey when compa-red wifh other Mediterrenean countries. Mutation screening for 35delG on Cx26 gene has been established in our Molecular Genetics Laboratory and being offered as a routine diagnostic test since March 2001.
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Abstract (Original Language): 
Bu çalışmada, otozomal resesif kalıtım modeline uyan non-sendromik sensorinöral (NSSİK) işitme kaybı bulunan 52 hastadan elde edilen DNA materyalinde Cx 26 geninin dizi analizi yapıldı. Test edilen ailelerin %27.8 inde Cx26 geninde mutasyon saptandı. Bu mutasyonların %79.3 ünü 35delG mutasyonu oluşturdu. Türk toplumunda bu mutasyonun prevalansmı saptamak amacıyla 360 kontrol birey tarandı ve taşıyıcılık sıklığı %0.84 olarak saptandı. Elde edilen bulgular, Türk NSSİK hastalarında Cx26 genindeki 35delG mutasyonunun diğer Akdeniz ülkelerine göre daha az olduğunu gösterdi. Cx26 geninde 35 del G mutasyonunu saptamak için laboratuarımız koşullarına uyarladığımız test, Mart 2001 den itibaren Moleküler Genetik Laboratuarımızda rutin uygulamaya girdi.
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  • 2
115-118
  • Turkish

REFERENCES

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