TSitologiya i Genetika 2005, vol. 39, no. 5, 56-61
Cytology and Genetics , vol. , no. , , doi: https://www.doi.org/

Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine

Hryshchenko N.V., Kravchenko S.A., Livshits L.A.

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 17р11.2 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.

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TSitologiya i Genetika
2005, vol. 39, no. 5, 56-61

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