| US 7,521,190 B2 | ||
| Compositions and methods for genetic analysis of polycystic kidney disease | ||
| Jeffrey G. Jones, Wilbraham, Mass. (US); Aidan N. Hennigan, Millbury, Mass. (US); John A. Curran, Worcester, Mass. (US); Susan K. Allen, Worcester, Mass. (US); Normand J. Robichaud, Leominster, Mass. (US); Jing Wang, Worcester, Mass. (US); Kerry E. Flynn, Grafton, Mass. (US); Jorge A. Garcés, Dudley, Mass. (US); Christopher M. Palatucci, Shrewsbury, Mass. (US); and William K. Seltzer, Holden, Mass. (US) | ||
| Assigned to Athena Diagnostics, Inc., Worcester, Mass. (US) | ||
| Filed on Mar. 02, 2007, as Appl. No. 11/713,772. | ||
| Application 11/713772 is a division of application No. 10/411915, filed on Apr. 11, 2003, granted, now 7,273,701. | ||
| Application 10/411915 is a continuation in part of application No. 10/083246, filed on Feb. 26, 2002, granted, now 6,916,619. | ||
| Claims priority of provisional application 60/328739, filed on Oct. 12, 2001. | ||
| Prior Publication US 2007/0166755 A1, Jul. 19, 2007 | ||
| Int. Cl. C12Q 1/68 (2006.01); C12P 19/34 (2006.01) | ||
| U.S. Cl. 435—6 [435/91.2] | 14 Claims |
| 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.
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