Dergi Ara >>
Yıl:1986; Cilt: 1; Sayı: 8>> Özet
TAM METİN
Düşünen Adam: Psikiyatri ve Nörolojik Bilimler Dergisi; 1986;1(8):58-71
Klinik ve Moleküler Çalışmalar Yönünden Epileptik Araştırmalar - Bir Çeviri
AV Delgado, D Greenberg (Çev. B Arpacı, ME Ceylan)
Spesifik epilepsilerin kromozomal lokalizas-yonlanm belirlemekteki ilk adım, onların kalıtım paternlerini belirlemektir. Bu belirleme şimdilerde myoklonik epilepsiler konusunda yapılmaktadır. Bu çalışmalar 50 multijenerasyonel aile üzerinde, üç ayrı epilepsi programı halinde Los Angeles, Winston-Salem, NC ve Berlin'de yürütülmektedir. Bu çalışmalarda araştmcüar, kalıtım prensiplerini ve 30 protein belirleyicisi ile parça-sınır-uzunluk polimorfizmini kombine biçimde kullanarak myoklonik epüepsinin (jüvenü) kromozomal lokalizasyonunu yapmaya çalışmaktadırlar. Şu an önümüzde iki problem durmaktadır. Bunlardan üki spesifik epüepsilerin kromozomal lokalizasyonunun bilinmemesi ve bundan dolayı bütün insan genomunun taranmak zorunda kalışıdır, ikincisi spesifik epilepsi gen odağının 10^ hk bir temel gen çifti sahasına daraltılması ve özellikle genleri tayin ve sayım metodlarına ait yetersizliklerimizin bulunduğu bir durumda epilepsiden sorumlu geni bulmaktaki ve moleküler defekti tayin etmekteki güçlüklerdir. Bir yaklaşım tarzı şudur ki deney hayvanlarında deneysel myoklonik epüepsiden sorumlu olduğu kuşkula¬nılan proteinlerin DNA fregmanlarını belirleyici olarak kullanmaktır. Mesela deney hayvanlarında myoklonik epüepsiye neden olduğundan şüphe edüen gama-aminobütirik asit reseptör genleri benign myoklonik jüvenü epilepsilerde test edilebilir. Diğer yandan, öteki spesifik epüepsilerin kromozomal lokalizasyonlannı tayin etmek için yukarıdakine benzer şekilde diğer protein belirleyicileri kullanılabilir. Kromozomal lokalizasyon belirlenir belirlenmez, rekombinan DNA teknolojisi ile belli bir kromozom dokusundaki protein belirleyicileri ve parça-sınır-uzunluk polimorfizmi için genlerin tam bir düzenlenmesinin belirlenmesi mümkün olacaktır.

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