Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Efeito Fundador , Glaucoma/congênito , Glaucoma/genética , Mutação/genética , Idade de Início , Brasil/epidemiologia , Pré-Escolar , Citocromo P-450 CYP1B1 , Feminino , Glaucoma/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Estados Unidos/epidemiologiaRESUMO
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers--AR, PGKP1, DXS453, and DXYS1X--in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0).