[The diagnosis and prevalence of locus CMT1A duplication in XXXX ].

@entity1 @entity5108 @entity16 @entity1897 @entity32853 @entity32852
BACKGROUND: The @entity5108 or @entity1897 ( @entity1897 ) is the most frequent @entity16 . The demyelinated or type 1 form ( @entity32852 ) is the most frequently presented, commonly being of a dominant autosomic inheritance. @entity32852 is heterogeneous genetically and the subjacent mutation found in most of the cases is a duplication of 1,500 kb in the CMT1A locus of chromosome 17p11.2. The aim of the present study was to determine the prevalence of CMT1A duplication in @entity1 with @entity32852 and evaluate its usefulness as a biological diagnostic marker. METHODS: The study was carried out in a group of @entity1 with @entity1897 who were not related, and were distributed according to the following diagnostic categories: @entity32852 (n = 49), @entity32853 (n = 9), untyped @entity5108 (n = 11) and D  j  rine-Sottas (DS) disease (n = 4). To detect three alleles confirming the presence of duplication the DNA of the @entity1 was analyzed with four polymorph markers, VAW409R3a, RM11-GT, VAW412R3HEc and EW401HE localized in the CMT1A locus. RESULTS: CMT1A duplication was found in 68.7% of the @entity1 with @entity32852 and in 27.2% of untyped @entity5108 @entity1 . None of the individuals in the @entity32853 and DS categories showed duplication. Cases pertaining to families with dominant autosomic inheritance and genetically sporadic cases were confirmed to show a high prevalence of duplication, being of 83.3% and 85.7%, respectively. CONCLUSIONS: Duplication of the CMT1A locus is the most prevalent mutation found in @entity5108 . It is a specific mutation of this disease among the different forms of @entity1897 . This mutation is useful as a biological marker in the diagnosis of these @entity16 .
