US 11,655,508 B2
PKD mutations and evaluation of same
Terry J. Watnick, Chevy Chase, MD (US); Miguel Garcia-Gonzalez, Brion (ES); Gregory G. Germino, Chevy Chase, MD (US); and Jeffery G. Jones, Wilbraham, MA (US)
Assigned to Athena Diagnostics, Inc., Marlborough, MA (US); and The Johns Hopkins University, Baltimore, MD (US)
Filed by Athena Diagnostics, Inc., Marlborough, MA (US); and The Johns Hopkins University, Baltimore, MD (US)
Filed on Aug. 31, 2020, as Appl. No. 17/8,385.
Application 17/008,385 is a division of application No. 14/289,160, filed on May 28, 2014, granted, now 10,760,128.
Application 14/289,160 is a continuation of application No. 12/309,337, granted, now 8,771,946, previously published as PCT/US2007/016705, filed on Jul. 24, 2007.
Claims priority of provisional application 60/832,780, filed on Jul. 24, 2006.
Prior Publication US 2021/0079472 A1, Mar. 18, 2021
Int. Cl. C12Q 1/6883 (2018.01)
CPC C12Q 1/6883 (2013.01) [C12Q 2600/118 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01)] 4 Claims
 
1. A method for detecting in an individual a mutant PKD1 gene comprising:
a) obtaining a nucleic acid sample from said individual; and
b) detecting in the nucleic acid sample a nucleotide sequence alteration in a PKD1 gene of said individual, wherein said alteration is a change of a C to a T at nucleotide position 4517 of SEQ ID NO:1,
wherein detection of the nucleotide sequence alteration is indicative of a mutant PKD1 gene.