ROLE OF GENES AND INTERACTION BETWEEN GENES AND ENVIROMENT ON CLEFT LIP AND PALATE ETIOLOGY

Öz

Cleft lip and/or cleft palate are one of the most common birth defects. These anomalies are caused by genetic, environmental factors and combination of these factors. With recent advances in modern molecular biology and methods which are used for the analysis of population genetics, important progress has been made in identifying some of genes associated with cleft lip and palate. Recently multiple genes have been implicated in the etiology of clefting. Additional disturbances in growth factors or their receptors that may be involved in the failure of fusion include fibroblast growth factor, transforming growth factor-p, platelet-derived growth factor, and epidermal growth factor. In last ten years, especially interactions between some genes and enviromental factors were pointed out in cleft lip and palate etiology. For the improvement of the prevention strategies and treatment methods of cleft lip and palate, thorough investigation of the fetal and maternal genoms and taking precautions with the planned pregnancy about the possible risks are of great importance

Anahtar Kelimeler

• Cleft lip and palate,etiology,genes

DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ

Öz

Dudak ve /veya damak yarıkları sıklıkla görülen doğumsal anomalilerdendir. Bu anomaliler genetik, çevresel faktörler ve bu faktörlerin kombinasyonu sonucu meydana gelmektedir. Popülasyon genetiğinin analizinde kullanılan modern moleküler biyoloji ve metodlardaki son gelişmelerle birlikte dudak damak yarığı ile ilişkili bazı genlerin aydınlatılmasında ilerleme kaydedilmiştir. Son zamanlarda dudak damak yarığı etiyolojisinde çoklu genler sorumlu tutulmaktadır. İlaveten fibroblast büyüme faktörü, transforming bü- yüme faktörü, platelet kökenli büyüme faktörü ve epidermal büyüme faktörü gibi büyüme faktörleri veya reseptörlerindeki bozukluklar da füzyonda başarısızlığa sebep olan faktörlere dahil edilmiştir. Son on yılda özellikle genler ve çevresel faktörler arasındaki etkile- şimler dudak damak yarığı etiyolojisinde vurgulan- maktadır. Dudak damak yarığı için alınacak önlemlerin ve tedavi metodlarının geliştirilmesi için fetal ve maternal genomların çok iyi araştırılması, planlı hamilelikle beraber olası riskler konusunda önlemlerin alınması büyük önem taşımaktadır.

Anahtar Kelimeler

• Dudak damak yarığı,etiyoloji,genler

Kaynakça

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