# US 8,771,946 B2 · PKD mutations and evaluation of same

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- Number: US 8,771,946 B2
- Document ID: US8771946B2
- Status: Granted
- Kind: B2
- Application number: 12/309,337
- Filed: 2007-07-24
- Published: 2010-02-25
- Granted: 2014-07-08
- Earliest claimed: 2006-07-24
- Assignees: Athena Diagnostics, Inc.; The Johns Hopkins University
- Applicants: Terry J. Watnick; Miguel Garcia-Gonzales; Gregory G. Germino; Jeffrey G. Jones
- Inventors: Terry J. Watnick; Miguel Garcia-Gonzales; Gregory G. Germino; Jeffrey G. Jones
- Web page: https://patentgrep.com/patent/US8771946B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES

## 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.

## Claims

### Claim 1

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 obtained from a human;
b) detecting a mutation in the PKD1 gene, wherein the mutation is a deletion of TTTAA at nucleotide positions 559 to 563 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.

### Claim 2 (depends on 1)

The method of claim 1, wherein the assaying comprises a method selected from the group consisting of sequencing, polymerase chain reaction, denaturing high performance liquid chromatography, and combinations thereof.

### Claim 3

A method for detecting a mutant PKD1 gene in a human, comprising:
a) assaying a nucleic acid sample comprising a PKD1 gene obtained from a human; and
b) detecting a mutation in the PKD1 gene, wherein the mutation is a deletion of TTTAA at nucleotide positions 559 to 563 of SEQ ID NO:1, and
wherein the mutation indicates the human has a mutant PKD1 gene.

### Claim 4 (depends on 3)

The method of claim 3, wherein the assaying comprises a method selected from the group consisting of sequencing, polymerase chain reaction, denaturing high performance liquid chromatography, and combinations thereof.

### Claim 5

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; and
b) detecting a mutation in the PKD1 gene, wherein the mutation results in a N116fsX polymorphism of SEQ ID NO:3 in the polypeptide sequence encoded by the PKD1 gene;
c) diagnosing or predicting the occurrence of ADPKD in the human when the polymorphism is detected.