| 摘要 |
The present invention relates to the identification of a complete cDNA coding for human lysosomal sialidase, its cloning, sequencing and expression, and to the identification of mutations found in sialidosis patients and chromosomal mapping of the sialidase gene. There is provided a human lysosomal sialidase encoded by the DNA sequence set forth in Fig. 1 (SEQ ID NO:1) and having the amino acid sequence depicted in Fig. 1 (SEQ ID NO:2). There is also provided a method of mutations analysis in patients affected with sialidosis or similar diseases, which comprises the steps of: a) isolating DNA from a biological sample of said patients; b) comparing the DNA of step a) with the DNA of the present invention to determine the presence of any mutation, whereby the presence of a mutation is indicative of sialidosis or similar diseases. |
