METHOD FOR SCREENING MUTATION OF GENE OF FAMILIAL AORTIC ANEURYSM

摘要

PPROBLEM TO BE SOLVED: To provide a method for screening the mutation of the gene of familial aortic aneurysm, to provide a method for detecting familial aortic aneurysm on the basis of the mutation of the gene, and to provide a kit for detecting the familial aortic aneurysm. PSOLUTION: There is provided the method for comprehensively detecting the mutation of the triple helix domain of type 3 procollagen (COL3A1) gene which is a gene causing familial aortic aneurysm, the mutation of domains except the triple helix domain of the Col3A1 gene, the mutation of transforming growth factor beta receptor 1 (TGFBR1) gene or the mutation of transforming growth factor beta receptor 2 (TGFBR2) gene with a primer pair capable of amplifying the exon fragment of the gene. PCOPYRIGHT: (C)2011,JPO&INPIT