Aspecte clinico-genetice ale neuropatiilor senzitivo-motorii ereditare în Republica Moldova

Rezumat

Present work has given possibility to create national register of patients with Charcot-Marie-Tooth (CMT). This investigation is important for in time determination of clinic diagnosis, also for molecular genetic diagnosis post- and prenatal in families affected with CMT 1A. Were investigated 106 patients which constituted 79 families from Moldavian Republic. Pedigree analysis within this group revealed in 56% of cases autosomal dominant model (type) of inheritance. Incidence of duplications NMSE 1A of patients from Moldavian Republic is 69%. Analysis of D17S921, D17S122 and D17S834 markers for reviewed patients revealed next frequency : 23.88% of duplications for locus D17S921, 32.83% for locus D17S122 and 24.62% for D17S834 locus. Also has been found that one person may have mutations in 2 loci.