POLYNUCLEOTIDE AND METHOD FOR DETECTING HUMAN PAX2 GENE MUTATION BY USING THE SAME

摘要

PROBLEM TO BE SOLVED: To provide a polynucleotide useful for diagnosis of PAX2 gene mutation diseases such as Renal coloboma syndrome.;SOLUTION: The polynucleotide comprises a DNA sequence in which both of G at position 662 and C at position 663 are delated when a base sequence of exon is numbered from the top of an exon 1 in the DNA sequence including an exon 2 of human PAX2 gene, a part of intron 1 adjacent to the exon 2 and a part of intron 2 or a DNA sequence in which G at position 775 is substituted with C when the base sequence of exon is numbered from the top of exon 1 in the DNA sequence including the exon 2 of human PAX2 gene, a part of intron 1 adjacent to the exon 2 and a part of intron 2 or the polynucleotide has a base sequence complementary to the above polynucleotide. Human PAX2 gene mutation is detected by detecting the above polynucleotide.;COPYRIGHT: (C)2005,JPO&NCIPI