| 摘要 |
The present invention provides a method for diagnosing or screening for bovineα-mannosidosis, comprising detecting, in nucleic acid samples from cattle, the presence or absence ofα-mannosidosis-causing mutations in the gene encoding bovine lysosomalα-mannosidase (LAMAN) and a method of detectingα-mannosidosis-causing mutations in cattle, comprising detecting the presence or absence of base transitions in the gene encoding bovine LAMAN, which are associated with disease, are described. The cDNA and genomic sequence for bovine lysosomalα-mannosidase has been identified and the specific point mutations resulting inα-mannosidosis in cattle characterised. In Angus and related breeds, a T to C transition at position 961 as shown in Fig. 1 results in a Phe to Leu amino acid substitution. In Galloway cattle, a G to A transition at position 662 of Fig. 1 results in an Arg to His amino acid substitution. PCR based amplification and RFLP detection techniques are conveniently used in the methods of the invention. |
