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Journal of Applied Genetics 45(1), 2004, pp. 101-105

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group

Anna SULEK, Dorota HOFFMAN-ZACHARSKA, Malgorzata BEDNARSKA-MAKARUK, Walentyna SZIRKOWIEC, Jacek ZAREMBA


Abstract: Spinocerebellar ataxias are a group of neurodegenerative disorders caused by dynamic mutations of microsatellite repeats. Two novel forms of SCAs have been described recently: SCA8, with expansions of CTA/CTG repeats in 3'UTR of the SCA8 gene, and SCA12, caused by expansion of the CAG tract in 5'UTR of the SCA12/PP2R2B gene. Analysis of CTA/CTG and CAG polymorphism in those two genes was performed in a Polish control group consisting of 100 individuals without any neurological signs. The distribution and ranges of the number of non-pathogenic repeats were similar to those observed in other populations described previously. Expansion of CTA/CTG repeats in the SCA8 locus was found in 2 of 100 controls and in 5 probands among 150 pedigrees affected with unidentified ataxias. As such expanded alleles were also observed in their healthy relatives, the pathogenic role of expansions in the SCA8 gene remains uncertain.

Key words: SCA - spinocerebellar ataxia, dynamic mutation, trinucleotide repeats.

Correspondence: J. ZAREMBA, Department of Genetics, Institute of Psychiatry and Neurology, ul. Sobieskiego 9, 02-957 Warszawa, Poland; e-mail: zaremba@ipin.edu.pl

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