RESUMO
Arachnomelia syndrome (AS) is a recessive inherited disease in cattle. Although the arachnomelia phenotypes are virtually identical in Brown Swiss and Simmental cattle, the causative mutation are different, which are a 1 bp insertion c.363-364insG in the sulfite oxidase (SUOX) gene and a 2 bp deletion c.1224_1225delCA in the molybdenum cofactor syn-thesis step 1 (MOCS1) gene, respectively. In the current study, combining fluorescence PCR with capillary electrophoresis technology, an automatic fluorescence method was established, which could detect the two causative loci rapidly and cor-rectly with a single reaction. Samples from 51 Simmental bulls, 80 cows mated artificially using semen of Simmental bulls and their resulted 106 progeny, together with 55 Xinjiang Brown were collected and used for validation of the newly de-signed methods. Our results have laid a foundation for screening AS disease causing mutations in Chinese cattle.
Assuntos
Doenças dos Bovinos/genética , Coenzimas/genética , Deformidades Congênitas dos Membros/veterinária , Metaloproteínas/genética , Oxirredutases atuantes sobre Doadores de Grupo Enxofre/genética , Reação em Cadeia da Polimerase/métodos , Animais , Bovinos , Doenças dos Bovinos/congênito , Doenças dos Bovinos/diagnóstico , Feminino , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Masculino , Cofatores de Molibdênio , Mutagênese Insercional , Pteridinas , Deleção de SequênciaRESUMO
Arachnomelia syndrome (AS) is a lethal congenital malformation of skeleton in cattle, which proved to be an autosomal recessive inherited defect. This disease was mainly observed in European Brown Swiss and German Fleckvieh populations. This review focused on the discovery history, pathologic characteristics, mode of inheritance, and progresses on molecular mechanism of AS in both European Brown Swiss and German Fleckvieh populations. Moreover, through analyzing candidate genes in the mapping region related to bone development and using the methods of comparative genomics, this paper provides a starting point of identifying the causal gene(s) of AS and establishing detection method of the mutations.