Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil

Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil

•This study investigated the Warmblood Fragile Foal Syndrome allele frequency in warmblood horses in Brazil.•The allele frequency in Brazilian horses was 5.5%, which is similar to that reported in the United States and Europe.•Control measures should be adopted to prevent an increase in the incidenc...

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Bibliographic Details
Published in:The veterinary journal (1997) Vol. 248; pp. 101 - 102
Main Authors: Dias, Natalia Moraes, de Andrade, Danilo Giorgi Abranches, Teixeira-Neto, Antônio Raphael, Trinque, Camila Moreira, Oliveira-Filho, José Paes de, Winand, Nena J., Araújo Jr, João Pessoa, Borges, Alexandre Secorun
Format: Journal Article
Language:English
Published: England Elsevier Ltd 01-06-2019
Subjects:
Animals
Animals, Newborn
Brazil - epidemiology
Collagen
Connective tissue
Ehlers-Danlos Syndrome - genetics
Ehlers-Danlos Syndrome - veterinary
Female
Horse Diseases - epidemiology
Horse Diseases - genetics
Horses
Incidence
Male
Mutation
PLOD1gene
Polymorphism, Single Nucleotide
Brazil
Connective tissue
PLOD1gene
Mutation
Collagen
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Summary:•This study investigated the Warmblood Fragile Foal Syndrome allele frequency in warmblood horses in Brazil.•The allele frequency in Brazilian horses was 5.5%, which is similar to that reported in the United States and Europe.•Control measures should be adopted to prevent an increase in the incidence of this disorder worldwide. Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive genetic disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene, associated with collagen biosynthesis. WFFS causes lesions and malformations of the skin in neonatal foals, and abortion. The objective of this study was to investigate the allelic frequency of the single nucleotide polymorphism (SNP) c.2032G>A in the PLOD1 gene in warmblood samples from Brazil. Of the 374 Warmblood horses tested, 41 animals (11%) were identified as heterozygous for the WFFS SNP and 333 (89%) were homozygous for the wild-type allele (N/N), and therefore, the allele frequency was 5.5%. This study highlights the importance of control measures to prevent an increase in the incidence of WFFS in Warmblood horses worldwide.
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ISSN:1090-0233
1532-2971
DOI:10.1016/j.tvjl.2019.05.002