Patent ID: 6656681
Filing Date: 2003-12-02
Classification: A61K,A61P,C07K

Abstract:
A method for screening a subject to determine whether said subject is a carrier of or is afflicted with a PKD1-associated disorder, which method comprises detecting the presence or absence of PKD1 nucleic acid in a biological sample from said subject, wherein detection of a mutant PKD1 nucleic acid or the absence of a PKD1 nucleic acid is indicative of a genetic mutation giving rise to a PKD1-associated disorder, andwherein said mutant PKD1 nucleic acid comprises a nucleic acid sequence wherein a sequence selected from the group consisting of the following ((a)-(l)) is deleted: (a) (OX114) a nucleic acid comprising 446 base pairs between nucleotides 1746-2192 as defined in Seq. I.D. No. 1; (b) (OX32) a nucleic acid comprising 135 base pairs between nucleotides 3696-3831 as defined in Seq. I.D. No. 1; (c) (OX875) a nucleic acid comprising about 5.5 Kb flanked by the two Xbal sites shown in FIG. 3a and encompassing the EcoR1 site separating the CW10 (41 kb) and JH1 (18 kb) fragment; (d) (WS-53) a nucleic acid comprising about 100 kb encompassing the PKD1 gene, wherein the 3â€² end of said nucleic acid lies between the JH1 and CW21 fragment and the 5â€² end of said nucleic acid lies between the SM6 and JH17 fragment shown in FIG. 6; (e) (WS-215) a nucleic acid comprising about 160 kb encompassing the PKD1 gene, wherein said nucleic acid extends 3â€² of the PKD1 gene to within fragment CW15 and 5â€² of the PKD1 gene to between fragments SM6 and JH17 as shown in FIG. 12; (f) (WS-227) a nucleic acid comprising about 50 kb encompassing the PKD1 gene, wherein said nucleic acid extends 3â€² of the PKD1 gene to within fragment CW20 and 5â€² of the PKD1 gene to within fragment JH11 as shown in FIG. 12; (g) (WS-219) a nucleic acid comprising about 27 kb encompassing a portion of the PKD1 gene, wherein said nucleic acid extends 3â€² of the PKD1 gene within fragment JH1 and into the PKD1 gene to within fragment JH6 as shown in FIG. 12; (h) (WS-250) a nucleic acid comprising about 160 kb encompassing the PKD1 gene, wherein said nucleic acid extends 3â€² of the PKD1 gene to within fragment CW20 and 5â€² of the PKD1 gene to within fragment BLu24 as shown in FIGS. 1a and 12: (i) (WS-194) a nucleic acid comprising about 65 kb encompassing the PKD1 gene, wherein said nucleic acid extends 3â€² of the PKD1 gene to within fragment CW20 and 5â€² of the PKD1 gene to within fragment CW10; (j) (461) a nucleic acid comprising 18 base pairs in the 75 base pair intron amplified by the primer pair 3A3C (Seq. I.D. No.s: 11 and 12) insert at position 3696 of the 3â€² sequence as shown in FIG. 11; (k) (OX1054) a nucleic acid comprising 20 base pairs in the 75 base pair intron amplified by the primer pair 3A3C (Seq. I.D. No.s: 11 and 12) insert at position 3696 of the 3â€² sequence as shown in Figure; and (l) (WS-212) a nucleic acid comprising about 75 kb located downstream of the PKD1 gene and located between fragments SM9 and CW9 distal of the PKD1 gene and the PKD1 3â€²UTR proximal to the PKD1 gene as shown in FIG. 12.