Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine.
Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. The major mutation--microduplication of 1.4 megabases in 17p11.2 region, which is responsible for 68-90 % of cases of CMT1, results in CMT1A. In the present article we provide the population genetic study in 52 unrelated non-CMT volunteers from population of Ukraine in three STRs (D17S921, D17S1358 and D17S122) from the 17p11.2 chromosomal region to determine their ability for the CMT1A-duplication detection using STR-PCR method in Ukraine. The informativity for the CMT1A detection in current use STR panel is calculated to be 93,6%. It has been shown that current use STR panel analysis is important for CMT1A duplication detection, early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
Hryshchenko
N V
NV
Institute of Molecular Biology and Genetics National Academy of Science of Ukraine, Kyiv.
Kravchenko
S A
SA
Livshits
L A
LA
D000483:Alleles; D001782:Blood Donors; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D020440:Gene Duplication; D005787:Gene Frequency; D005799:Genes, Dominant; D005828:Genetics, Population; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D018895:Microsatellite Repeats; D008957:Models, Genetic; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D014455:Ukraine / Q000453:epidemiology