X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - A STUDY OF 15 FAMILIESWITH 12 HIGHLY INFORMATIVE POLYMORPHISMS

Citation
S. Cochrane et al., X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - A STUDY OF 15 FAMILIESWITH 12 HIGHLY INFORMATIVE POLYMORPHISMS, Journal of Medical Genetics, 31(3), 1994, pp. 193-196
Citations number
31
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
31
Issue
3
Year of publication
1994
Pages
193 - 196
Database
ISI
SICI code
0022-2593(1994)31:3<193:XCD(-A>2.0.ZU;2-0
Abstract
X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously b een localised to Xq13-21. Fifteen families were studied using 12 highl y informative polymorphisms in the pericentric region of the X chromos ome. Phase known recombinations in these families localise the X linke d dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and pro ximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent repor t of mutations in the GJB1 gene in subjects with CMTX1 makes this a st rong candidate gene.