Hayvanlarda Kalıtsal Hastalıklar ve Teşhis
Özet
Kalıtsal Hastalıklar (konjenital anomaliler) doğumda mevcut olan yapı veya fonksiyon anormallikleridir. Tek bir anatomik yapıyı veya işlevi, tüm bir sistemi, birkaç sistemin parçalarını veya hem bir yapıyı hem de bir işlevi etkileyebilirler. Bunlar ölümcül, yarı ölümcül veya yaşamla uyumlu olabilir ve canlılığı bozabilir veya estetik bir etkiye sahip olabilir ve dolayısıyla ekonomik değeri ve/veya hayvan refahını azaltabilir. Konjenital kusurlara kimyasal teratojenler, kromozomal anormallikler, teratojenik bitkiler, çevresel ışınlama, bovine viral diarrhoea/mucosal disease (BVD/MD) virüsü gibi enfeksiyöz (viral, bakteriyel, protozoal, klamidyal) ajanlar ve genetik mutasyonlar gibi farklı faktörler neden olmaktadır. Kalıtsal konjenital kusurlar giderek artan bir oranda fark edilmekte ve büyük olasılıkla ıslahta heterozigot etkilenmemiş taşıyıcı hayvanların kullanılmasının bir sonucu olarak yayılmaktadır. Taşıyıcı hayvanlarda Akrabalık katsayısının yüksek olması, kalıtsal malformasyon oranını önemli ölçüde artırmaktadır.
Referanslar
Finch J, Abrams S, Finch A. Analogs of human genetic skin disease in domesticated animals. International Journal of Women's Dermatology; 2017;(3): 170–175.
Johnson J, Leipold WH, Hudson BD. Prominent Congenital Defects in Nebraska Beef Cattle. Breed. Reprod; 1985;(4): 1–8.
Tayel SM, Fawzia MM, Al-Naqeeb AN, et al. A morpho-etiological description of congenital limb anomalies. Ann Saudi Med;2005;25(3): 219–227.
Jackson M, Marks L, May HWG, et al. The genetic basis of disease. Essays Biochem; 2018;62(5): 643–723.
Rafati NS, Andersson L, Mikko S, et al. Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. Genes, Genomes, Genetics; 2016;(6): 2213–2223.
Kumbasar U, Uysal S, Doğan R. Congenital pulmonary malformations. Turk Gogus Kalp Damar Cerrahisi Derg; 2024;(32): 60–72.
https://visgar.vetmed.ufl.edu/en_equrep/congenital-anomalies/congenital-anomalies.html. Erişim Tarihi: 28.03.2025.
Yuzbasiyan-Gurkan V, Bartlett E. Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: An animal model of acrodermatitis enteropathica. Genomics; 2006;(88): 521-526.
Jung S, Pausch H, Langenmayer MC, et al. A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle. BMC Genomics; 2014;(15): 623.
Thomsen B, Horn P, Panitz F, et al. A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res; 2006; (16): 97-105.
Shuster DE, Kehrli ME, Ackermann MR, et al. Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proc Natl Acad Sci USA; 1992;(89): 9225-9229.
Schwenger B, Schober S, Simon D. DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. Genomics; 1993;(16): 241-244.
Dennis JA, Healy PJ, Beaudet AL, et al. Molecular Definition of Bovine Argininosuccinate Synthetase Deficiency Proc Natl Acad Sci USA; 1989;(86): 7947-7951.
Haton BM, Robinson JL, Beever JE. Identification of the mutation responsible for factor XI deficiency in Holstein cattle. Plant and Animal Genome (PAG) VIII; 2000: Abstract P375.
Drögemüller C, Distl O, Leeb T. Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle Genome Research; 2001;(11): 1699-1705.
Drögemüller C, Kuiper H, Peters M, et al. Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis. Vet Dermatol; 2002;(13): 307-313.
Tharwat M. Clinical, ultrasonographic, and postmortem findings in sheep and goats with urinary tract disorders. Vet. World; 2021(14): 1879–1887.
Alekish M; Bani Ismail Z. Common diseases of sheep (Ovis aries Linnaeus) and goats (Capra aegagrus hircus) in Jordan: A retrospective study (2015–2021). Open Veterinary J; 2022(12): 9.
Mellersh C. The genetics of eye disorders in the dog. Mellersh Canine Genetics and Epidemiology; 2014;(1): 3.
Freeman ML, Rush EJ, Stern AJ, et al. Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. Cardiol Res; 2017;8(4): 139–142.
Maan S, Dalal S, Kumar A, et al. Novel Molecular Diagnostics and Therapeutic Tools for Livestock Diseases. In: Advances in Animal Biotechnology and its Applications, Singapore, Springer 2018. p. 229-245.
De Coster T, Zhao Y, Tšuiko O, et al. Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection. Sci. Rep; 2024;(14): 2003.
Jean Dodds W. One Health: Animal Models of Heritable Human Bleeding Diseases. Animals; 2022;(13): 87.
Laseca N, Anaya G, Peña Z, et al. Impaired Reproductive Function in Equines: From Genetics to Genomics. Animals; 2021;(11): 393.
