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US 2014/0349290 A1Published application
Pkd mutations and evaluation of same
AssigneesAthena Diagnostics, Inc., The Johns Hopkins University
InventorsTerry J. Watnick, Miguel Garcia-Gonzales, Gregory G. Germino, Jeffery G. Jones
Life of this patent
Estimating the term…
Abstract
The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.
Claims10
A method of diagnosing or predicting the occurrence of autosomal dominant polycystic kidney disease (ADPKD) in a human comprising:
- a) assaying a sample comprising a nucleic acid encoding a PKD1 gene obtains from a human;
- b) detecting a mutation in the PKD1 gene wherein the mutation is selected from:
- an insertion of CT at a nucleotide corresponding to position 1124 of SEQ ID NO:1, an insertion of an A, T, G, or C at a nucleotide corresponding to position 2291 of SEQ ID NO:1, an insertion of an A, T, G, or C at a nucleotide corresponding to position 2297 of SEQ ID NO:1, an insertion of a at a nucleotide corresponding to position 5365 of SEQ ID NO:1, an insertion of a G at a nucleotide corresponding to position 6666 of SEQ ID NO:1, an insertion of an A at a nucleotide corresponding to position 6881 of SEQ ID NO:1, a deletion of a T at a nucleotide corresponding to position 8713 of SEQ ID NO:1, an insertion of an A, T, G, or C at a nucleotide corresponding to position 9134 of SEQ ID NO:1, an insertion of 5 nucleotides at a nucleotide corresponding to position 9536 of SEQ ID NO:1, a deletion of a T at a nucleotide corresponding to position 10239 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 483 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 4517 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 7006 of SEQ ID NO:1, a change of a C to T at a nucleotide corresponding to position 8267 of SEQ ID NO:1, a change of a G to a T at a nucleotide corresponding to position 8639 of SEQ ID NO:1, a change of a G to an A at a nucleotide corresponding to position 20168 of SEQ ID NO:7, a change of a G to a T at a nucleotide corresponding to position 31025 of SEQ ID NO:7, a change of a G to a C at a nucleotide corresponding to position 33415 of SEQ ID NO:7, a deletion of CAA between nucleotides corresponding to positions 508 to 516 of SEQ ID NO:1, a deletion of TGG at nucleotides corresponding to positions 1848 to 1850 of SEQ ID NO:1, a deletion of CCAACTCCG at nucleotides corresponding to positions 8892 to 8900 of SEQ ID NO:1, a deletion of AAG at nucleotides corresponding to positions 9905 to 9907 of SEQ ID NO:1, a deletion of CTC at nucleotides corresponding to positions 10070 to 10072 of SEQ ID NO:1, a deletion of TGG at nucleotides corresponding to positions 12597 to 12599 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 1023 of SEQ ID NO:1, NO:1, a change of an A to a G at a nucleotide corresponding to position 1470 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 4262 of SEQ ID NO:1, a change of a T to an A at a nucleotide corresponding to position 8855 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 1794 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 2042 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 3351 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 6756 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 5793 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 6707 of SEQ ID NO:1, a change of a G to a C at a nucleotide corresponding to position 10187 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 10311 of SEQ ID NO:1, a change of a T to a C at a nucleotide corresponding to position 7554 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 7757 of SEQ ID NO:1, a change of a T to a C at a nucleotide corresponding to position 8067 of SEQ ID NO:1, a change of a C to a at a nucleotide corresponding to position 8138 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 8509 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 10096 of SEQ ID NO:1 and a change of a C to a T at a nucleotide corresponding to position 12658 of SEQ ID NO:1, and
- c) diagnosing or predicting the occurrence of ADPKD in the human when the mutation in the PKD1 gene is detected.
1 more element
(canceled)
4-8. (canceled)
A method for detecting a mutant PKD1 gene in a human, comprising:
- a) assaying a nucleic acid sample comprising a PKD1 gene from a human;
- and
- b) detecting a mutation in the PKD1 gene, wherein the mutation is selected from:
- an insertion of CT at a nucleotide corresponding to position 1124 of SEQ ID NO:1, an insertion of an A, T, G, or C at a nucleotide corresponding to position 2291 of SEQ ID NO:1, an insertion of an A, T, G, or C at a nucleotide corresponding to position 2297 of SEQ ID NO:1, an insertion of a at a nucleotide corresponding to position 5365 of SEQ ID NO:1, an insertion of a G at a nucleotide corresponding to position 6666 of SEQ ID NO:1, an insertion of an A at a nucleotide corresponding to position 6881 of SEQ ID NO:1, a deletion of a T at a nucleotide corresponding to position 8713 of SEQ ID NO:1, an insertion of an A, T, G, or C at a nucleotide corresponding to position 9134 of SEQ ID NO:1, an insertion of 5 nucleotides at a nucleotide corresponding to position 9536 of SEQ ID NO:1, a deletion of a T at a nucleotide corresponding to position 10239 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 483 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 4517 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 7006 of SEQ ID NO:1, a change of a C to T at a nucleotide corresponding to position 8267 of SEQ ID NO:1, a change of a G to a T at a nucleotide corresponding to position 8639 of SEQ ID NO:1, a change of a G to an A at a nucleotide corresponding to position 20168 of SEQ ID NO:7, a change of a G to a T at a nucleotide corresponding to position 31025 of SEQ ID NO:7, a change of a G to a C at a nucleotide corresponding to position 33415 of SEQ ID NO:7, a deletion of CAA between nucleotides corresponding to positions 508 to 516 of SEQ ID NO:1, a deletion of TGG at nucleotides corresponding to positions 1848 to 1850 of SEQ ID NO:1, a deletion of CCAACTCCG at nucleotides corresponding to positions 8892 to 8900 of SEQ ID NO:1, a deletion of AAG at nucleotides corresponding to positions 9905 to 9907 of SEQ ID NO:1, a deletion of CTC at nucleotides corresponding to positions 10070 to 10072 of SEQ ID NO:1, a deletion of TGG at nucleotides corresponding to positions 12597 to 12599 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 1023 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 1470 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 4262 of SEQ ID NO:1, a change of a T to an A at a nucleotide corresponding to position 8855 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 1794 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 2042 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 3351 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 6756 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 5793 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 6707 of SEQ ID NO:1, a change of a G to a C at a nucleotide corresponding to position 10187 of SEQ ID NO:1, a change of an A to a G at a nucleotide corresponding to position 10311 of SEQ ID NO:1, a change of a T to a C at a nucleotide corresponding to position 7554 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 7757 of SEQ ID NO:1, a change of a T to a C at a nucleotide corresponding to position 8067 of SEQ ID NO:1, a change of a C to a at a nucleotide corresponding to position 8138 of SEQ ID NO:1, a change of a C to a T at a nucleotide corresponding to position 8509 of SEQ ID NO:1, a change of a C to an A at a nucleotide corresponding to position 10096 of SEQ ID NO:1 and a change of a C to a T at a nucleotide corresponding to position 12658 of SEQ ID NO:1, wherein the mutation indicates the human has a mutant PKD1 gene.
1 more element
(canceled)
A method of diagnosing or predicting the occurrence of autosomal dominant polycystic kidney disease (ADPKD) in a human comprising:
- a) sequencing all or a portion of a PKD1 gene isolated from a nucleic acid sample obtained from a human;
- b) detecting a mutation in the PKD1 gene, wherein the mutation results in a mutation, relative to SEQ ID NO:3, selected from:
- W305 fsX, P694 fsX, A696 fsX, V1718 fsX, D2152 fsX, P2224 fsX, F2834 fsX, P2975 fsX, 13109 fsX, 13109 fsX, L3343 fsX, S91X, R1436X, Y2265X, Q2686X, E2810X, W4001X, N101del, V546del, ANS2894del, K3232del, L3287del, V4129del, A271D, Y420C, R1351W, Y528C, R611W, S1047L, Q2182R, T18611, R2166C, G3326R, L2448P, R2516C, L2619P, R2643C, R2767C, N3295K, and R4149C;
- and
- c) diagnosing or predicting the occurrence of ADPKD in the human when the mutation is detected.
2 more elements
Dependencies are inferred from the claim text.