NÜKET BİLGEN, BENGİ ÇINAR KUL, Okan ERTUĞRUL, Ferudun ERZURUM

Molecular Screening of LFS and PSSM-I Diseases in Arabian Horse Population in Turkey

Atların "Polisakkarit Depolama Hastalığı" (Polisaccarite Storage Myopathy, PSSM) ve "Lavanta Renkli Tay Sendromu" (Lavander Foal Syndrome, LFS) aktarılan kalıtsal hastalıklardır. PSSM-I'de, Glikojen Sentaz-1 (GYS1) geninde meydana gelen bir nokta mutasyonuna bağlı olarak enzim etkinliğinde artış şekillenmekte ve anormal polisakkaritler oluşmaktadır. Lavanta renkli tay hastalığında ise Miyozin-Va (MYO5A) geninde çerçeve kayması mutasyonuna neden olan bir bazlık delesyon sonucunda proteinde prematüre sonlanma şekillenmektedir. Sunulan araştırmada, Anadolu (n=70), Karacabey (n=70) ve Sultansuyu (n=99) Tarım İşletmeleri'nde yetiştirilen damızlık Arap atlarından temin edilmiş 239 adet kan örneği kullanılmıştır. İncelenen popülasyonda LFS ve PSSM hastalıklarıyla ilişkilendirilen mutasyonlara rastlanmamıştır

Türkiye Arap Atı Popülasyonunda LFS ve PSSM-I Hastalıklarının Moleküler Taraması

Polysaccharide Storage Myopathy (PSSM) and Lavender Foal Syndrome (LFS) are inherited diseases in horse. PSSM-I, a point mutation in Glycogen Synthase-1 gen (GYS1) causes increased activation of the enzyme and abnormal polysaccharides formation. LFS caused by one nucleotide deletion in Myosin-Va (MYO5A) leads frame shift mutation and premature termination of the protein. In the study, a total of 239 blood samples, taken from Anadolu (n=70), Karacabey (n=70) and Sultansuyu (n=99) stud farms were screened. Diseases related mutations were not detected in the sampled Arabian horse population

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