Type 1A duplication analysis for high risk families

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From Tsitol Genet. 2003 Nov-Dec;37(6):55-9.

[No authors listed]

Charcot-Marie-Tooth neuropathy (CMT) is one of the most common

hereditary disorders, affecting 1:2500 individuals. CMT is a

heterogeneous group of disorders characterized by chronic peripheral

motor and sensory neuropathy. We have performed the detection of 1.5 Mb

CMT1A tandem duplication in 17p11.2-12 chromosome region for

autosome-dominant CMT1 patients and their relatives using the analysis

of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358

localised in the duplication region. CMT1A duplication was found in

three of five autosome-dominant CMT1 families. It has been shown that

CMT1A duplication analysis is important for early differential diagnosis

of CMT including prenatal diagnosis and genetic consulting in high risk

families.