Patent ID: 7521190
Filing Date: 2009-04-21
Classification: C12Q

Abstract:
1. A method of detecting autosomal dominant polycystic kidney disease (ADPKD) in an individual comprising detecting the presence of one or more nucleotide sequence alterations selected from the group consisting of: a) PKD1X10 (transition C>T at nucleotide 2300, codon 697 of PKD1 gene), b PKD1X15J (1 base pair deletion T at nucleotide 5352, codon 1714 of PKD1 gene), c PKD1X40 (19 base pair insertion at nucleotide 11606, codon 3799 of PKD1 gene), d PKD1X40 (1 base pair insertion at nucleotide 11558, codon 3783 of PKD1 gene), e PKD1X31 (1 base pair deletion of C at nucleotide 10287, codon 3359 of PKD1 gene), f PKD2X1A (52 base pair insertion at nucleotides 139-190, codons 25-42 of PKD2 gene), g PKD1X36 (13 base pair insertion at nucleotide 10884, codon 3558 of PKD1 gene), h PKD2X4 (transition of C>T at nucleotide 1147, codon 361 of PKD2 gene), i PKD2X1C (4 base pair insertion of CGCC at nucleotide 596, codon 177 of PKD2 gene), j PKD1X13 (1 base pair deletion of C at nucleotide 3310, codon 1033 of PKD1 gene), k PKD1X1 (1 base pair deletion of C at nucleotide 364, codon 51 of PKD1 gene), l PKD1X15A (transition G>A at nucleotide 3694, codon 1161 of PKD1 gene), m PKD2X1B (1 base pair deletion of G at nucleotide 405, codon 113 of PKD2 gene), n PKD1X24 (1 base pair insertion of T at nucleotide 9134, codon 2975 of PKD1 gene), o PKD1X35 (2 base pair deletion of GA at nucleotides 10735-10736, codons 3508-3509 of PKD1 gene), p PKD1X42(1 base pair deletion at nucleotide 11836, codon 3875 of PKD1 gene), q PKD1X14 (transition C>T at nucleotide 3395, codon 1062 of PKD1 gene), and r PKD1X46B (transversion G>T at nucleotide 12926, codon 4239) in the nucleotide sequence of a PKD-1 or PKD-2 gene in a nucleic acid sample obtained from said individual, wherein the presence of said one or more nucleotide sequence alterations indicates that the individual has ADPKD.