Investigation of severe combined immunodeficiency (SCID) disease of Arabian horses raised at the state stud farms in Turkey

Abstract

Severe Combined Immunodeficiency (SCID) is a lethal and autosomal recessive hereditary disorder, which has frequently been reported in Arabian horses, dogs, mice and humans. The genetic basis of equine SCID is 5-base pairs deletion in the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene. Up to date, there is no information on the presence of SCID in Arabian horses reared in Turkey either by clinical observation or molecular diagnosis. The main aims of this study were to investigate the presence of SCID mutant allele carrier and to determine SCID incidence in Turkey using molecular techniques. In the study, DNA samples were obtained from 239 Arabian horses raised in state stud farms of Turkey (Karacabey, n=70; Anadolu, n=70 and Sultansuyu, n=99) and they were analyzed using DNA-PKcs gene specific polymerase chain reaction and fragment analysis by capillary electrophoresis. The result of the study showed that, none of the examined Arabian horses has SCID mutation on their responsible gene region. In conclusion, no SCID carrier was identified among examined stud Arabian horses that were representing the 65.5% (239 out of 365) of all officially registered stud animals in Turkey. It is believed that, this first genetic screening study focused on the SCID determination at national level and the evidence of the disease absence have the potential to increase breeding value of Arabian horses originated from Turkey

Keywords

• DNA-PKcs
• hereditary disorder
• SCID
• Turkish Arabian horses

Türkiye devlet çiftliklerindeki damızlık Arap atlarında şiddetli kombine immun yetmezliği (SCID)hastalığının araştırılması

Abstract

Arap atlarında görülen Şiddetli Kombine İmmun Yetmezliği (Severe Combined Immunodeficiency, SCID), ölümcül ve otozomal çekinik aktarılan kalıtsal bir hastalıktır. SCID’in atlardaki genetik temeli DNA-bağımlı protein kinazın katalitik alt ünitesi geninde (DNA-PKcs) 5 baz çiftlik bir delesyondur. Şimdiye kadar, Türkiye’de yetiştirilen Arap atlarında SCID varlığı hakkında klinik gözlem ve moleküler tanı açısından bilgi bulunmamaktadır. Bu çalışmanın başlıca amacı; moleküler teknikler kullanarak SCID mutant alleli taşıyıcılarının varlığının araştırılması ve SCID sıklığının belirlenmesidir. Çalışmada devlet çiftliklerinde yetiştirilen 239 baş Arap atından DNA (Karacabey n=70; Anadolu n=70 ve Sultansuyu n=99) elde edilmiş ve DNA-PKcs genine özgü polimeraz zincir reaksiyonu ve fragment analizi kullanılarak analiz yapılmıştır. Çalışma sonucunda, incelenen Arap atlarının ilgili gen bölgesinde SCID mutasyonu taşımadıklarını gösterilmiştir. Sonuç olarak, Türkiye’de devlet eliyle yetiştirilen damızlık Arap atlarının toplam sayısının %65.5’inde (365 baş Arap atının 239’unda) SCID taşıyıcısı belirlenmemiştir. Türkiye’de ulusal düzeyde SCID genetik tanısına yönelik gerçekleştirilen bu ilk çalışmayla birlikte hastalığın bulunmadığına dair ortaya konulan bulguların, Türkiye’de yetiştirilen Arap atlarının değerini arttırma potansiyeline sahip olduğu düşünülmektedir

Keywords

• DNA-PKcs
• kalıtsal hastalık
• SCID
• Türkiye Arap atları

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