title: Identification of complex vertebral malformation carriers in Chinese Holstein.
abstract: Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.
authors.affiliation: Department of Animal Genetics and Breeding, College of Animal Science and Technology, China Agricultural University, 2 Yuanmingyuan West Road, Beijing, China 100094.
authors.forename: Qin
authors.initials: Q
authors.lastname: Chu
authors.forename: Dongxiao
authors.initials: D
authors.lastname: Sun
authors.forename: Ying
authors.initials: Y
authors.lastname: Yu
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000662:veterinary*; D000818:Animals; D001483:Base Sequence; D002417:Cattle / Q000002:abnormalities / Q000235:genetics*; D002418:Cattle Diseases / Q000235:genetics*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D006579:Heterozygote; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000662:veterinary; D018807:Polymorphism, Single-Stranded Conformational; D013131:Spine / Q000002:abnormalities
chemical_list: D009004:Monosaccharide Transport Proteins; D004247:DNA