Arrays, Systems, and Methods of Using Genetic Predictors of Polycystic Diseases
OwnerArlene Chapmaninventor
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Abstract
Embodiments of the present disclosure encompass resequencing and comparative genomic hybridization arrays for identifying inherited polycystic diseases. The arrays allow identification of one or more of the following features: SNPs, deletions, duplications, mutations, unstable repeats, and the like that can be used to determine if a host has a polycystic disease such as ADPKD.
Claims24
An array for the detection of genetic variation associated with a polycystic disease or a plurality of polycystic diseases comprising:
- a plurality of nucleic acid segments, wherein each nucleic acid segment is immobilized to a discrete and known spot on a substrate surface to form an array of nucleic acids, and each spot comprises a segment of a nucleic acid sequence associated with a polycystic disease, wherein the unique polynucleotide sequences allow identification of one or more of the following:
- SNPs, deletions, duplications, and mutations.
A method for screening a host for at polycystic disease, comprising:
- detecting a polynucleotide sequence having intronic and/or exonic variation in a gene associated with a polycystic disease comprising contacting a nucleic acid sample isolated from a patient with an array of nucleic acids derived from a plurality of genes associated with a polycytic disease, wherein the plurality of genes are selected from the group consisting of PKD1 (polycystic kidney disease 1), PKD2 (polycystic kidney disease 2), PKHD1 (polycystic kidney and hepatic disease 1), TSC1 (tuberous sclerosis 1), TSC2 (tuberous sclerosis 2), NPHP1 (nephronophthisis 1), NPHP2 (nephronophthisis 2), NPHP3 (nephronophthisis 3), NPHP4 (nephronophthisis 4), PRKCSH (medullary cystic kidney disease type 1), UMOD (autosomal dominant medullary cystic kidney disease type 2), and SEC63 (autosomal dominant inherited polycystic liver disease).
A kit for detecting a genetic variation in a gene associated with a polycystic disease comprising a resequencing array for detecting a polymorphism in a nucleic acid sequence associated with a polycystic disease are derived from human genes selected from the group consisting of PKD1 (polycystic kidney disease 1), PKD2 (polycystic kidney disease 2), PKHD1 (polycystic kidney and hepatic disease 1), TSC1 (tuberous sclerosis 1), TSC2 (tuberous sclerosis 2), NPHP1 (nephronophthisis 1), NPHP2 (nephronophthisis 2), NPHP3 (nephronophthisis 3), NPHP4 (nephronophthisis 4), PRKCSH (medullary cystic kidney disease type 1), UMOD (autosomal dominant medullary cystic kidney disease type 2), and SEC63 (autosomal dominant inherited polycystic liver disease), and instructions for the use thereof.
Dependencies are inferred from the claim text.