Physical Rehab Medicine, Medical Doctor, Presidents:
Mary K. Alderson President, Medical Doctor, inactive,Carolyn Balbierz Office Manager, inactive,Janet M. Balbierz Physical Rehab Medicine, Medical Doctor, President, inactive
Professional information
Mary Alderson, Salt Lake City UT
Work:
Western Neurological Assoc Inc 166 E 5900 S, Salt Lake City, UT 84107
Dr. Mary K Alderson, Salt Lake City UT - MD (Doctor of Medicine)
Specialties:
Clinical Neurophysiology
Address:
2875 Decker Lake Dr SUITE 550, Salt Lake City 84119 166 E 5900 S SUITE B106, Murray 84107 (801) 743-6444 (Phone), (801) 743-6888 (Fax)
Languages:
English
Education:
Medical School University of California At Los Angeles Graduated: 1981
Deletion In Chromosome 17P11.2-12 Which Causes The Disorder Hereditary Neuropathy With Liability To Pressure Palsies
US Patent:
5645993, 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.