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
References
- Ainsworth DM, Weldon AD, Beck KA, Rowland PH (1993): Recognition of Pneumocystis carinii in foals with respiratory distress. Equine Vet J, 25, 103-108.
- Bailey E, Reid RC, Skow LC, Mathiason K, Lear TL, McGuire TC (1997): Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4; synteny and FISH mapping to ECA9. Anim Genet, 28, 268-273.
- Bernoco D, Bailey E (1998): Frequency of the SCID gene among Arabian horses in the USA. Anim Genet, 29, 41-42.
- Bjorneby JM, Leach DR, Perryman LE (1991): Persistent cryptosporidiosis in horses with severe combined immunodeficiency. Infect Immun, 59, 3823- 3826.
- Bowling AT, Ruvinsky A (2000): The Genetics of The Horse. CABI Publishing, UK, 146.
- Clark EG, Turner AS, Boysen BG, Rouse BT (1978): Listeriosis in an Arabian foal with combined immunodeficiency. J Am Vet Med Assoc, 172, 363-366.
- Felsburg PJ, Somberg RL, Perryman LE (1992): Domestic animal models of severe combined immunodeficiency: canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses. Immunodef Rev, 3, 277-303.
- Mair TS, Taylor FGR, Harbour DA, Pearson GR (1990): Concurrent Cryptosporidium and Coronavirus Infections in an Arabian Foal with Combined Immunodeficiency Syndrome. Vet Rec, 126, 127-130.
- McChesney TC, England JJ, Rich LJ (1973): Adenoviral infections in foals. J Am Vet Med Assoc 162, 545-549.
- McGuire TC, Poppie MJ (1973): Hypogammaglobulinemia and thymic hypoplasia in horses: a primary combined immunodeficiency disorders. Infect Immun, 8, 272-277.
- Nicholas FW (1987): Veterinary Genetics. 1st edn. Oxford University Press, New York, 94-95.
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- Perryman LE (2004): Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol, 41, 95-100.
- Piro M, Benjouad A, Tligui NS, El Allali K, El Kohen M, Nabich A, Ouragh L (2008): Frequency of the severe combined immunodeficiency disease gene among horses in Morocco. Equine Vet Jour, 40, 590–591.
- Poppie MJ, McGuire TC (1977): Combined immunodeficiency in foals of Arabian breeding: evaluation of mode of inheritance and estimation of prevalence of affected foals and carrier mares and stallions. J Am Vet Med Assoc, 170, 31-33.
- Shin EK, Perryman LE, Meek K (1997): A kinase- negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J Immunol, 158, 3565-3569.
- Shin EK, Perryman LE, Meek K (1997): Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait. J Am Vet Med Assoc, 211, 1268-1270.
- Shin EK, Rijkers T, Pastink A, Meek K (2000): Analyses of TCRB rearrangements substantiate a profound deficit in recombination signal sequence joining in SCID foals: implications for the role of DNA-dependent protein kinase in V(D)J recombination. J Immunol, 164, 1416– 1424.
- Snyder SP, England JJ, McChesney AE (1978): Cryptosporidiosis in immunodeficient Arabian foals. Vet Pathol, 15,12-17.
- Swinburne J, Lockhart L, Scott M, Binns MM (1999): Estimation of the prevalence of severe combined immunodeficiency disease in UK Arab horses as determined by a DNA-based test. Vet Rec, 145, 22-23.
- Teixeira CS, Oliveira DAA, Kuabara MY (2001): Prevalência da imunodeficiência severa combinada em cavalos da raça Árabe em plantéis de Minas Gerais e São Paulo Arq. Bras Med Vet Zootec, 53, 380-384 (article in portuguese with an English abstract).
- Terry RR, Cholewinski G, Cothran EG (1999): Absence of the severe combined immunodeficiency disease gene among Arabian horses in Poland. J Appl Genet, 40, 39-41.
- Thompson DB, Studdert MJ, Beilharz RG, Littlejohns IR (1975): Inheritance of a lethal immunodeficiency disease of Arabian foals. Aust Vet J, 51, 109-113.
- Türkiye Jokey Klubü. Türk Arap atı soykütüğü (Turkish Arabian Horse Studbook). 1st edn. Veliefendi Hipodromu Bakırköy, Istanbul, 1997.
- Wiler R, Leber R, Moore BB, VanDyk LF, Perryman LE, Meek K (1995): Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity. Proc Natl Acad Sci, USA 92, 11485-11489.
- Zavrtanik J, Mesarič M, Majdič G (2005): Genetic monitoring for Severe Combined Immunodeficiency carriers in horses in Slovenia. Slov Vet Res, 42, 37-41. Geliş tarihi: 28.01.2013 / Kabul tarihi: 16.09.2013 Address for correspondence: Assist. Prof. Dr. Bengi Çınar Kul Department of Genetics, Faculty of Veterinary Medicine Ankara University, 06110, Diskapi, Ankara-Turkey e-mail: bkul@ankara.edu.tr
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
References
- Ainsworth DM, Weldon AD, Beck KA, Rowland PH (1993): Recognition of Pneumocystis carinii in foals with respiratory distress. Equine Vet J, 25, 103-108.
- Bailey E, Reid RC, Skow LC, Mathiason K, Lear TL, McGuire TC (1997): Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4; synteny and FISH mapping to ECA9. Anim Genet, 28, 268-273.
- Bernoco D, Bailey E (1998): Frequency of the SCID gene among Arabian horses in the USA. Anim Genet, 29, 41-42.
- Bjorneby JM, Leach DR, Perryman LE (1991): Persistent cryptosporidiosis in horses with severe combined immunodeficiency. Infect Immun, 59, 3823- 3826.
- Bowling AT, Ruvinsky A (2000): The Genetics of The Horse. CABI Publishing, UK, 146.
- Clark EG, Turner AS, Boysen BG, Rouse BT (1978): Listeriosis in an Arabian foal with combined immunodeficiency. J Am Vet Med Assoc, 172, 363-366.
- Felsburg PJ, Somberg RL, Perryman LE (1992): Domestic animal models of severe combined immunodeficiency: canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses. Immunodef Rev, 3, 277-303.
- Mair TS, Taylor FGR, Harbour DA, Pearson GR (1990): Concurrent Cryptosporidium and Coronavirus Infections in an Arabian Foal with Combined Immunodeficiency Syndrome. Vet Rec, 126, 127-130.
- McChesney TC, England JJ, Rich LJ (1973): Adenoviral infections in foals. J Am Vet Med Assoc 162, 545-549.
- McGuire TC, Poppie MJ (1973): Hypogammaglobulinemia and thymic hypoplasia in horses: a primary combined immunodeficiency disorders. Infect Immun, 8, 272-277.
- Nicholas FW (1987): Veterinary Genetics. 1st edn. Oxford University Press, New York, 94-95.
- Perryman LE, Torbeck LR (1980): Combined immunodeficiency of Arabian horses: confirmation of autosomal recessive mode of inheritance. J Am Vet Med Assoc, 176, 1250-1251.
- Perryman LE (2004): Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol, 41, 95-100.
- Piro M, Benjouad A, Tligui NS, El Allali K, El Kohen M, Nabich A, Ouragh L (2008): Frequency of the severe combined immunodeficiency disease gene among horses in Morocco. Equine Vet Jour, 40, 590–591.
- Poppie MJ, McGuire TC (1977): Combined immunodeficiency in foals of Arabian breeding: evaluation of mode of inheritance and estimation of prevalence of affected foals and carrier mares and stallions. J Am Vet Med Assoc, 170, 31-33.
- Shin EK, Perryman LE, Meek K (1997): A kinase- negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J Immunol, 158, 3565-3569.
- Shin EK, Perryman LE, Meek K (1997): Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait. J Am Vet Med Assoc, 211, 1268-1270.
- Shin EK, Rijkers T, Pastink A, Meek K (2000): Analyses of TCRB rearrangements substantiate a profound deficit in recombination signal sequence joining in SCID foals: implications for the role of DNA-dependent protein kinase in V(D)J recombination. J Immunol, 164, 1416– 1424.
- Snyder SP, England JJ, McChesney AE (1978): Cryptosporidiosis in immunodeficient Arabian foals. Vet Pathol, 15,12-17.
- Swinburne J, Lockhart L, Scott M, Binns MM (1999): Estimation of the prevalence of severe combined immunodeficiency disease in UK Arab horses as determined by a DNA-based test. Vet Rec, 145, 22-23.
- Teixeira CS, Oliveira DAA, Kuabara MY (2001): Prevalência da imunodeficiência severa combinada em cavalos da raça Árabe em plantéis de Minas Gerais e São Paulo Arq. Bras Med Vet Zootec, 53, 380-384 (article in portuguese with an English abstract).
- Terry RR, Cholewinski G, Cothran EG (1999): Absence of the severe combined immunodeficiency disease gene among Arabian horses in Poland. J Appl Genet, 40, 39-41.
- Thompson DB, Studdert MJ, Beilharz RG, Littlejohns IR (1975): Inheritance of a lethal immunodeficiency disease of Arabian foals. Aust Vet J, 51, 109-113.
- Türkiye Jokey Klubü. Türk Arap atı soykütüğü (Turkish Arabian Horse Studbook). 1st edn. Veliefendi Hipodromu Bakırköy, Istanbul, 1997.
- Wiler R, Leber R, Moore BB, VanDyk LF, Perryman LE, Meek K (1995): Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity. Proc Natl Acad Sci, USA 92, 11485-11489.
- Zavrtanik J, Mesarič M, Majdič G (2005): Genetic monitoring for Severe Combined Immunodeficiency carriers in horses in Slovenia. Slov Vet Res, 42, 37-41. Geliş tarihi: 28.01.2013 / Kabul tarihi: 16.09.2013 Address for correspondence: Assist. Prof. Dr. Bengi Çınar Kul Department of Genetics, Faculty of Veterinary Medicine Ankara University, 06110, Diskapi, Ankara-Turkey e-mail: bkul@ankara.edu.tr
Details
| Primary Language | English |
|---|---|
| Subjects | Veterinary Surgery |
| Other ID | JA88YT69PF |
| Journal Section | Research Article |
| Authors | |
| Publication Date | March 1, 2014 |
| Published in Issue | Year 2014 |