title: Screening for JH1 genetic defect carriers in Jersey cattle by a polymerase chain reaction and restriction fragment length polymorphism assay.
abstract: An autosomal recessive genetic defect termed JH1 has been associated with early embryonic loss in the Jersey cattle breed. The genetic basis has been identified as a cytosine to thymine mutation in the CWC15 gene that changes an amino acid from arginine to a stop code. To screen for JH1 carriers in an imported Jersey population in China, a method based on a polymerase chain reaction amplification followed by a restriction fragment length polymorphism assay (PCR-RFLP) was developed for the accurate diagnosis of the JH1 allele. A total of 449 randomly chosen cows were examined with the PCR-RFLP assay, and 31 were identified as JH1 carriers, corresponding to a carrier frequency of 6.9%. The PCR-RFLP method was validated by DNA sequencing of 8 positive and 13 negative samples, with all 21 samples giving the expected DNA sequence. In addition, 3 negative and 3 positive samples were confirmed by a commercial microarray-based single nucleotide polymorphism assay. Finally, samples from 9 bulls in the United States of known status were correctly identified as carriers (5 bulls) or noncarriers (4 bulls). As the JH1 defect has most likely spread worldwide, implementing routine screening is necessary to avoid the risk of carrier-to-carrier matings and to gradually eradicate the deleterious gene.
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Gang
authors.initials: G
authors.lastname: Guo
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Hetian
authors.initials: H
authors.lastname: Huang
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Lu
authors.initials: L
authors.lastname: Lu
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Lijie
authors.initials: L
authors.lastname: Wang
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Lingzhao
authors.initials: L
authors.lastname: Fang
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Lin
authors.initials: L
authors.lastname: Liu
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu).
authors.forename: Yachun
authors.initials: Y
authors.lastname: Wang
authors.affiliation: National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics and Breeding and Reproduction of Ministry of Agriculture, China Agricultural University, Beijing, China (Y Zhang, Huang, Lu, L Wang, Fang, Y Wang, S Zhang)Beijing Shounong Xumu Fazhan Co Ltd., Beijing, China (Guo, Liu) zhang62733697@163.com.
authors.forename: Shengli
authors.initials: S
authors.lastname: Zhang
mesh_terms: D000034:Abortion, Veterinary / Q000175:diagnosis* / Q000235:genetics; D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000175:diagnosis* / Q000235:genetics; D002681:China; D003612:Dairying; D005260:Female; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000662:veterinary*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D021122:Protein Subunits / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000662:veterinary
chemical_list: D021122:Protein Subunits
keywords: CWC15; Cattle; Jersey; embryonic loss; genetic defect; polymerase chain reaction; restriction fragment length polymorphism assay