Sendromik olmayan işitme kaybının genetiği

Yıl 2006, Cilt: 13 Sayı: 2, 37 - 46, 21.04.2009

Nilüfer Şahin Calapoğlu

Öz

SüleymanDemirel Üniversitesi
TIP FAKÜLTESİ DERGİSİ: 2006 Haziran; 13(2)



Sendromik olmayan işitme kaybının genetiği


Nilüfer Şahin Calapoğlu

Özet

İşitme kaybı, dünya çapında 70 milyonun üzerinde bireyi etkileyen en yaygın algılama bozukluklarından bir tanesidir. Konjenital işitme bozukluklarının insidansı en az 1000 doğumda bir olup bu vakaların yarısı genetik faktörlere bağlıdır. İnsan genom projesinde kaydedilen ilerlemeler neticesinde 30,000 civarında olduğu tahmin edilen insan genlerinin en az %1'inin işitme için gerekli olduğu düşünülmektedir. İç kulağın ve normal işitme süreçlerinin karmaşık yapısı göz önünde bulundurulduğunda yüzlerce farklı gende oluşabilecek değişimin işitme bozukluğu ile sonuçlanabileceği fikri şaşırtıcı değildir. Bugüne kadar, non-sendromik işitme kaybından sorumlu yaklaşık 110 adet genin kromozomal lokasyonu belirlenmiş ve elliden fazla lokusta bulunan gen tanımlanarak karakterize edilmiştir. Derleme niteliğindeki bu çalışmada, otozomal dominant ve resesif non-sendromik işitme kaybından sorumlu yaklaşık 20 gen ve bu genler tarafından ifade edilen protein ürünlerin biyolojik rolleri ile işitme kaybına olan etkilerine değinilecektir.


Anahtar kelımeler:İşitme kaybı, genetik, insan sağırlık genleri


Abstract

The genetics of non-syndromic deafness


Hearing loss is one of the most important defects that affects normal communication with more than 70 million people world-wide. Incidence of congenital hearing impairment is at least 1 in 1000 births, half of which can be attributed to genetic factors. Progress in the Human Genome Project thought that up to %1 of the approximately 30,000 human genes are necessary for hearing. In view of the complex structure of the inner ear and the mechanisms of normal hearing, it is not surprising that changes in hundreds of different genes can result in hearing impairment. Up to now, the chromosomal locations of about 110 genes for non-syndromic deafness have been mapped, and the genes of more than 50 loci have identified. In this review, we focus on the 20 genes causes of autosomal dominant and recessive inherited non-syndromic deafness, their biological roles and the affects on hearing loss.


Key words: Hearing impairment, genetics, human deafness genes

Anahtar Kelimeler

Ýþitme kaybý, genetik, insan saðýrlýk genleri

Kaynakça

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