title: Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México.
abstract: Hydrocephalus in Friesian horses is an autosomal recessive hereditary disease that can result in an abortion, a stillbirth, or euthanization of a newborn foal. Here, the hydrocephalus-associated c.1423C > T mutation in B3GALNT2 gene was detected with PCR-RFLP and PCR-PIRA methods for horse genotyping. A preliminary genotyping survey was performed on 83 randomly selected Friesian stallion horses to determine the current allele frequency in Mexico. The frequency of the mutant T allele was 9.6%.
authors.affiliation: Departamento de Producción Animal, División de Ciencias Veterinarias, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, A.P. 218 Zapopan 1, C.P. 45101, Zapopan, Jalisco, Mexico. Electronic address: manayala@cucba.udg.mx.
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Ayala-Valdovinos
authors.affiliation: Departamento de Producción Animal, División de Ciencias Veterinarias, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, A.P. 218 Zapopan 1, C.P. 45101, Zapopan, Jalisco, Mexico.
authors.forename: Jorge
authors.initials: J
authors.lastname: Galindo-García
authors.affiliation: Departamento de Producción Animal, División de Ciencias Veterinarias, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, A.P. 218 Zapopan 1, C.P. 45101, Zapopan, Jalisco, Mexico.
authors.forename: David
authors.initials: D
authors.lastname: Sánchez-Chiprés
authors.affiliation: Departamento de Producción Animal, División de Ciencias Veterinarias, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, A.P. 218 Zapopan 1, C.P. 45101, Zapopan, Jalisco, Mexico.
authors.forename: Theodor
authors.initials: T
authors.lastname: Duifhuis-Rivera
mesh_terms: D000818:Animals; D017931:DNA Primers / Q000378:metabolism*; D004587:Electrophoresis, Agar Gel; D056726:Genetic Association Studies; D060005:Genotyping Techniques / Q000379:methods*; D006736:Horses / Q000235:genetics*; D006849:Hydrocephalus / Q000235:genetics*; D008800:Mexico; D009154:Mutation / Q000235:genetics*; D059645:Mutation Rate; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*
chemical_list: D017931:DNA Primers; D017350:N-Acetylgalactosaminyltransferases
keywords: B3GALNT2; Friesian horse; Hydrocephalus; PCR-PIRA; PCR-RFLP