| 摘要 |
With respect to a range of 1.5 Mbp and more in the chromosome 19p13.3 region containing Peutz-Jeghers gene, a continuous cosmid contig is constructed and a restriction map is prepared. Next, genes mapped with this region are searched by using EST database and the locations of these genes are accurately determined. Based on the evaluation of biological data, etc., several highly likely candidates for Peutz-Jeghers genes are specified from the genes thus found. After successively analyzing variations in these genes in DNAs of patients with Peutz-Jeghers syndrome, it is found that one of these genes, i.e., "LKB1" has been specifically varied in these patients. Thus, the diseases caused by the variation in the LKB1 gene can be diagnosed and treated by using the LKB1 gene, primers and probes based on its base sequence, LKB1 protein, an antibody biding to this protein, etc. |
