Otizmin genetik temellleri

ÖZKUL, Yusuf; Sener, Elif Funda

Otizmin genetik temellleri

Elif Funda ŞENER, (Erciyes Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Kayseri, Türkiye)

Yusuf ÖZKUL (Erciyes Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Kayseri, Türkiye)

Sağlık Bilimleri Dergisi

5 0

Yıl: 2013 Cilt: 22 Sayı: 1 Sayfa Aralığı: 86 - 92 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Otizmin genetik temellleri

Öz:

Otistik bozukluk toplumsal ve iletişimselsorunları yaşamları boyunca süren çocukları veerişkinleri içine alan, özellikle erkeklerde (4:1) dahasık görülen yaygın gelişimsel bir bozukluktur.Yineleyici-sınırlayıcı hareketler dışında iletişim vebilişsel gelişimde gecikme ya da sapma ilekarakterizedir. Otizm etiyolojisinin bilinmemesinerağmen yapılan çalışmalar hastalığın oluşmasındagenetik faktörlerin büyük rol oynadığını göstermiştir.Otistik çocukların kardeşlerinde otizm görülmeriskinin sağlıklı bireylerin kardeşlerinden 30-150 katyüksek olduğu tespit edilmiştir. Otizm üzerindeki sondönem araştırmalar genetik, beyin işlevleri,nörokimyasal ve immünolojik etkenler üzerineyoğunlaşmıştır. Bağlantı ve ilişki çalışmaları ilebelirli kromozom bölgelerinde (2, 3, 7, 11, 15, 17, Xkromozomları) anlamlı sonuçlar bulunmuştur. Otizmiçin bilinmeyenlerin ışığında ayırıcı tanıda yolgösterebilecek, tedaviye yanıtı öngörebilecek veyaölçebilecek biyolojik belirteçler saptanmasının önemibüyüktür. Bu derleme otizmin genetik kökenihakkında kısa bir özet verilmesi ve otizme sebepolabileceği düşünülen genetik faktörlerin gözdengeçirilmesi amacıyla yazılmıştır.

Anahtar Kelime:

Konular: Genetik ve Kalıtım Pediatri

The genetic basis of autism

Öz:

Autistic spectrum disorder is a neuropsychiatric disorder which begins in the early years of life with delays and deviance in social, communicative and cognitive development and with restricted repertoire of activities and interests. Autism affects males four times more than females. Although the etiology of autism is unknown, evidence indicates that genetic factors play a major role in this disorder. The sibling recurrence risk of autism for additional children in families with an autistic child is 30-150 times greater than the population prevalence. Recent studies have focused on genetics, brain function, neurochemical and immunological factors. Significant results were found in several different chromosome regions (2, 3, 7, 11, 15, 17, X) with linkage and association studies. It is of great importance to detect biological markers for the differential diagnosis of autism. This review was written to give short information about the genetic basis of autism and for the revision of genetic factors thought to have a role in the etiology of autism.

Anahtar Kelime:

Konular: Genetik ve Kalıtım Pediatri

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

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APA	Sener E, ÖZKUL Y (2013). Otizmin genetik temellleri. , 86 - 92.
Chicago	Sener Elif Funda,ÖZKUL Yusuf Otizmin genetik temellleri. (2013): 86 - 92.
MLA	Sener Elif Funda,ÖZKUL Yusuf Otizmin genetik temellleri. , 2013, ss.86 - 92.
AMA	Sener E,ÖZKUL Y Otizmin genetik temellleri. . 2013; 86 - 92.
Vancouver	Sener E,ÖZKUL Y Otizmin genetik temellleri. . 2013; 86 - 92.
IEEE	Sener E,ÖZKUL Y "Otizmin genetik temellleri." , ss.86 - 92, 2013.
ISNAD	Sener, Elif Funda - ÖZKUL, Yusuf. "Otizmin genetik temellleri". (2013), 86-92.

APA	Sener E, ÖZKUL Y (2013). Otizmin genetik temellleri. Sağlık Bilimleri Dergisi, 22(1), 86 - 92.
Chicago	Sener Elif Funda,ÖZKUL Yusuf Otizmin genetik temellleri. Sağlık Bilimleri Dergisi 22, no.1 (2013): 86 - 92.
MLA	Sener Elif Funda,ÖZKUL Yusuf Otizmin genetik temellleri. Sağlık Bilimleri Dergisi, vol.22, no.1, 2013, ss.86 - 92.
AMA	Sener E,ÖZKUL Y Otizmin genetik temellleri. Sağlık Bilimleri Dergisi. 2013; 22(1): 86 - 92.
Vancouver	Sener E,ÖZKUL Y Otizmin genetik temellleri. Sağlık Bilimleri Dergisi. 2013; 22(1): 86 - 92.
IEEE	Sener E,ÖZKUL Y "Otizmin genetik temellleri." Sağlık Bilimleri Dergisi, 22, ss.86 - 92, 2013.
ISNAD	Sener, Elif Funda - ÖZKUL, Yusuf. "Otizmin genetik temellleri". Sağlık Bilimleri Dergisi 22/1 (2013), 86-92.