| Autor: |
Hryshchenko NV, Bychkova AM, Pichkur NA, Skyban HV, Dmytrenko VV, Livshyts' LA |
| Jazyk: |
ukrajinština |
| Zdroj: |
TSitologiia i genetika [Tsitol Genet] 2003 Nov-Dec; Vol. 37 (6), pp. 55-9. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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