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1

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

100%

Sulek A., Hoffman-Zacharska D., Bednarska-Makaruk M., Szirkowiec W., Zaremba J.

Journal of Applied Genetics

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2004

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vol. 45

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issue 1

101-105

EN

Spinocerebellar ataxias (SCAs) 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.

2

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

86%

Popowska E., Sulek A., Kubalska J., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.

Journal of Applied Genetics

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1998

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vol. 39

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issue 1

103-111

EN

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526?T (Pro176Ser) and G481?A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569?A (Gly190Glu) and C508?T (Arg170Ter), two transversions, C222?A (Phe74Leu) and C482?A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222?A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508?T in exon VII has been reported in eight families.

3

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

86%

Sulek A., Hoffman-Zacharska D., Krysa W., Szirkowiec W., Fidzianska E., Zaremba J.

Journal of Applied Genetics

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2005

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vol. 46

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issue 2

237-239

EN

Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SBMA is caused by CAG repeat expansion in the androgen receptor gene. CAG repeat polymorphism was analysed in a Polish control group (n = 150) and patients suspected of SBMA (n = 60). Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations.

4

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen

59%

Popowska E., Pronicka P. E., Pronicka E., Sulek S. A., Sulek A., Jurkiewicz J. D., Jurkiewicz D., Rowe R. P., Rowe P., Rowinska R. E., Rowinska E., Krajewska-Walasek K.-W. M., Krajewska-Walasek M.

Journal of Applied Genetics

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2000

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vol. 41

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issue 4

293-302

EN

We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene, exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.

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4 Journal of Applied Genetics

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4 Sulek A.

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2 Krajewska-Walasek M.

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2 Szirkowiec W.

2 Zaremba J.

1 Bednarska-Makaruk M.

1 Fidzianska E.

1 Goryluk-Kozakiewicz B.

1 Jezewska M.

1 Jurkiewicz D.

1 Jurkiewicz J. D.

1 Krajewska-Walasek K.-W. M.

1 Krysa W.

1 Kubalska J.

1 Pronicka E.

1 Pronicka P. E.

1 Rowe P.

1 Rowe R. P.

1 Rowinska E.

1 Rowinska R. E.

1 Sulek S. A.

1 Trembacz H.

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

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen