Athena Diagnostics, Inc.

William K Seltzer

Jeffrey George Jones

Susan Kimberly Allen

Narasimhan Nagan

Corey D Braastad

Hui Zhu

Sat Dev Batish

Normand J Robichaud

Jorge A Garcés

Christopher M Palatucci

John A Curran

Aidan Noel Hennigan

Kerry Ellen Flynn

Jing Wang

Jorge A Garces

Aidan N Hennigan

Kerry E Flynn

Uma Ananth

Michael Alan Boss

Charleen M Sullivan

Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)

The subject invention relates to nucleic acid sequences for detection of mutations in a PKD-1 or PKD-2 gene, as well as biomarkers for ADPKD. The invention further relates to methods for diagnosing ADPKD in an individual, and kits for performing the methods of the invention. The invention also provides a method for determining in an individual the presence or absence of a mutant PKD gene.

Compositions and methods for genetic analysis of polycystic kidney disease

Specific mutations in the connexin-32 gene that are associated with X-linked Charcot-Marie-Tooth (CMT) disease are disclosed. Methods of diagnosing X-linked CMT disease are also disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of mutant connexin-32 nucleic acid probes to connexin-32 genes; direct mutation analysis by restriction digest; sequencing of the connexin-32 gene; hybridization of an allele-specific oligonucleotide with genomic DNA; or identification of mutant connexin-32 proteins. Mutant connexin-32 nucleic acid probes are also disclosed. The mutant connexin-32 nucleic acid probes have a mutation in at least one of the following codons: 13, 16, 20, 28, 29, 41, 75, 79, 80, 85, 86, 94, 106, 124, 131, 158, 161, 169, 178, 180, 189, 191, 193, 219, 220, 230, and 267. Mutant connexin-32 nucleic acid probes having more than one of the mutations described above are also described, as are mutant connexin-32 nucleic acid probes having other mutations in addition to at least one mutation as described above. Isolated, mutant connexin-32 proteins encoded by mutant connexin-32 genes, as well as antibodies specific for the mutant connexin-32 proteins, are also disclosed.

Mutations relating to X-linked charcot-marie-tooth disease

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Holden, MA, United States of America

William K Seltzer