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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
|
2004
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vol. 45
|
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

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
|
vol. 46
|
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.
3

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

73%
Bogdanowicz J., Pawlowska B., Ilnicka A., Gawlik-Zawislak S., Jozwiak A., Sobiczewska B., Zdzienicka E., Korniszewski L., Zaremba J.
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vol. 51
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issue 2
215-217
EN
Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.
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