Polycystic kidney disease PKD2 gene and uses thereof

Details Polycystic kidney disease PKD2 gene and uses thereof Polycystic kidney disease PKD2 gene and uses thereof

2007-11-13

2007-11-13

Lu, Frank (Department: 1634)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S091100, C435S091200, C536S023100, C536S024300, C536S024330, C536S025300

Reexamination Certificate

active

11040384

ABSTRACT:
The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.

REFERENCES:
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patent: 6228591 (2001-05-01), Somlo et al.
Delmas et al., Polycystins, calcium signaling, and human diseases. Biochemical and Biophysical Research Communications, 322, 1374-1383, 2004.
Attachment for silent mutation.
Li et al., Polycystin-2 interacts with troponin I, an angiogenesis inhibitor. Biochemistry, 42, 450-457, 2003.
Zebala et al., Mapping catalytically important regions of an enzyme using two-codon insertion mutagenesis: a case study correlating beta-lactamase mutants with the three-dimensional structure. Gene, 100, 51-57, 1991.
San Millan, J.L, et al., “Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2”, Am. J. Hum. Genet. 1995; 56(1): 248-53.

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