RESUMEN

Complex vertebral malformation (CVM) is a recently described monogenic autosomal recessive hereditary defect of Holstein dairy cattle that causes premature birth, aborted fetuses and stillborn calves. Guanine is substituted by thymine (G>T) in the solute carrier family 35 member A3 gene (SLC35A3). A valine is changed to a phenylalanine at position 180 of uridine 5'-diphosphate-N-acetyl-glucosamine transporter protein. CVM is expected to occur in many countries due to the widespread use of sire semen. We developed a created restriction site PCR (CRS-PCR) method to diagnose CVM in dairy cows. This was tested on 217 cows and 125 bulls selected randomly from a Holstein cattle population in south China. Five Holstein cows and five Holstein bulls were identified to be CVM carriers; the percentages of CVM carriers were estimated to be 2.3, 4.0 and 2.9% in the cows, bulls and entire Holstein cattle sample, respectively.

Asunto(s)

Sustitución de Aminoácidos , Enfermedades de los Bovinos/genética , Bovinos , Enfermedades Genéticas Congénitas , Mutación Missense , Proteínas de Transporte de Nucleótidos/genética , Columna Vertebral/anomalías , Animales , Bovinos/anomalías , Bovinos/genética , China , Femenino , Frecuencia de los Genes/genética , Enfermedades Genéticas Congénitas/genética , Enfermedades Genéticas Congénitas/veterinaria , Heterocigoto , Masculino