Patent ID: 7294465
Filing Date: 2007-11-13
Classification: C07K,C12Q

Abstract:
1. A method for determining whether a human is at risk for development of autosomal dominant polycystic kidney disease, said method comprising assaying a polynucleotide sample containing polycystic kidney disease type 2 (PKD2) gene from said human to determine the presence or absence of a mutated PKD2 gene by (a) obtaining a polynucleotide sample containing the sequence of PKD2 gene located between genetic markers AFMa059xc9 and AICA1 on chromosome 4 from a human subject, wherein genetic markers AFMa059xc9 and AICA1 are adjacent to the PKD2 gene; (b) comparing the polynucleotide sample to a nucleotide sequence comprising SEQ ID NO:6, wherein SEQ ID NO:6 is human wild-type PKD2 gene sequence; and (c) determining the differences, if any, between the sequence of PKD2 gene in the polynucleotide sample and the nucleotide sequence comprising SEQ ID NO:6, wherein the human wild-type PKD2 sequence is SEQ ID NO:6, and thereby detecting the presence or absence of a mutation in the nucleotide sequence of PKD2 gene in a human subject; wherein the presence of a nonsense mutation in the PKD2 gene selected from the group consisting of a mutation of G to A at nucleotide 1205 of SEQ ID NO: 6, a mutation of C to T at nucleotide 2290 of SEQ ID NO: 6, and C to T at nucleotide 1279 of SEQ ID NO: 6 in the human subject is indicative that the human subject is at risk for development of autosomal dominant polycystic kidney disease.