title: [The development and application of method for detecting bovine complex vertebral malformation].
abstract: Complex vertebral malformation (CVM), a lethal autosomal recessive inherited defect in Holstein calves, was newly reported worldwide. The molecular cause of CVM was a substitution of guanine by thymine (G-->T) in a solute carrier family 35 member 3 gene (SLC35A3), encoding UDP-N-acetylglucosamine transporter. It was characterized by stillborn, abortion, and premature birth. The objective of this study was to study the actual carrier frequency of the CVM mutation in a population of Chinese Holstein (=Chinese Black-and-White) normal cattle. The normal 436 Holstein cows and 93 Holstein bulls were genotyping by using the Created Restriction Site PCR (CRS-PCR) and Allele-specific PCR (AS-PCR) methods. There were two bulls and one cow in three observed CVM-carriers. In the Holstein dairy cattle and Holstein bull population, the percentages of CVM carriers were estimated as 0.60% and 2.20% respectively. This study provided a more reliable and useful method for extensive screening of CVM and also offers a theoretical basis for molecular diagnosis in Holstein calves.
authors.affiliation: Dairy Cattle Center of Shandong Academy of Agricultural Sciences, Ji'nan 250100, China.
authors.forename: Hong-Mei
authors.initials: HM
authors.lastname: Wang
authors.forename: Jian-Bin
authors.initials: JB
authors.lastname: Li
authors.forename: Ming-Hai
authors.initials: MH
authors.lastname: Hou
authors.forename: Chang-Fa
authors.initials: CF
authors.lastname: Wang
authors.forename: Qiu-Ling
authors.initials: QL
authors.lastname: Li
authors.forename: Ji-Feng
authors.initials: JF
authors.lastname: Zhong
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002418:Cattle Diseases / Q000175:diagnosis* / Q000235:genetics; D002574:Cervical Vertebrae / Q000002:abnormalities; D019411:Clinical Laboratory Techniques; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003933:Diagnosis; D005260:Female; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D013122:Spinal Diseases / Q000175:diagnosis / Q000235:genetics*; D013131:Spine / Q000002:abnormalities