Nacer Eddiue Abbas

US Patent:

57802238, Jul 14, 1998

Filed:

Sep 30, 1993

Appl. No.:

8/129902

Inventors:

James R. Lupski - Houston TX
Benjamin B. Roa - Houston TX
Nacer E. Abbas - Houston TX
Pragna I. Patel - Houston TX

Assignee:

Baylor College of Medicine - Houston TX

International Classification:

C12Q 168
C07H 2102

US Classification:

435 6

Abstract:

A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie-Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.