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
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.