Methods for identifying subjects susceptible to...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C435S004000, C436S504000, C436S501000, C536S023100, C536S024300

Reexamination Certificate

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07449291

ABSTRACT:
In one aspect, the invention provides methods of identifying genetic mutations that are associated with peripheral neurological disease. The methods comprise identifying a difference between a nucleic acid sequence of a small integral protein of the lysosome/late endosome (“SIMPLE”) gene from a mammalian subject exhibiting peripheral neuropathy and a nucleic acid sequence of a SIMPLE gene from a subject which is not exhibiting peripheral neuropathy, wherein the difference is a genetic mutation associated with peripheral neurological disease. In another aspect, isolated nucleic acid molecules encoding SIMPLE missense mutations are provided. In another aspect, a method of screening a subject to determine if the subject has a genetic predisposition to develop Charcot-Marie-Tooth type 1C neuropathy is provided. In another aspect, the invention provides kits for determining susceptibility or presence of Charcot-Marie-Tooth type 1C neuropathy in a mammalian subject.

REFERENCES:
patent: 6432640 (2002-08-01), Polyak et al.
patent: 6566501 (2003-05-01), Amar
patent: WO 02/04514 (2002-01-01), None
patent: WO 02/29103 (2002-04-01), None
patent: WO 2005/000087 (2005-01-01), None
Street, V.A., et al., “Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies,”Am. J. Hum. Genet. 70:244-250, 2002.
Street, V.A., et al., “Mutation of a Putative Protein Degradation Gene LITAF/SIMPLE in Charcot-Marie-Tooth Disease 1C,”Neurology 60:22-26, Jan. 2003.

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