Polymorphic short tandem repeats for PCR-based diagnosis of CMT 1A duplication

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Tsitol Genet. 2005 Sep-Oct;39(5):56-61.

Polymorphic short tandem repeats for PCR-based diagnosis of the

Charcot-Marie-Tooth 1A duplication in Ukraine.

Hryshchenko NV, Kravchenko SA, Livshits LA.

Institute of Molecular Biology and Genetics National Academy of

Science of Ukraine, Kyiv.

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.