Phillip F Chance

US Patent:

7449291, Nov 11, 2008

Filed:

Jan 13, 2004

Appl. No.:

10/756194

Inventors:

Phillip F. Chance - Seattle WA, US
Valerie A. Street - Seattle WA, US
Jeff D. Goldy - Seattle WA, US
Thomas D. Bird - Lake Forest Park WA, US

Assignee:

University of Washington - Seattle WA

International Classification:

C12Q 1/68
C12Q 1/00
G01N 33/567
G01N 33/53
C07H 21/02
C07H 21/04

US Classification:

435 6, 435 4, 436504, 436501, 536 231, 536 243

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.

US Patent:

56459939, Jul 8, 1997

Filed:

May 18, 1995

Appl. No.:

8/443561

Inventors:

Phillip F. Chance - Philadelphia PA
Mary Kathryn Alderson - Salt Lake City UT
Shannon J. Odelberg - Salt Lake City UT
M. William Lensch - Devon PA

Assignee:

University of Utah - Salt Lake City UT

International Classification:

C12Q 168
C12P 1934
C07H 2104
C12N 1500

US Classification:

435 6

Abstract:

A method is disclosed for diagnosing Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). A submicroscopic deletion of about 1. 5 million basepairs on chromosome 17p11. 2 is associated with the disorder in three unrelated pedigrees. The deletion includes all the markers known to map within the Charcot-Marie-Tooth type 1A (CMT1A) duplication. The method involves detecting the presence or absence of the deletion in DNA extracted from a patient sample. The deletion may be detected by Southern analysis or fluorescence in situ hybridization analysis (FISH). Sequences or probes that may be used to detect the deletion are provided, as are components of a kit for diagnosing HNPP.