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Efficient SNP analysis enabled by joint application of the micro TGGE and heteroduplex methods

100%

Salimullah M., Hamano K., Tachibana M., Inoue K., Nishigaki K.

Cellular and Molecular Biology Letters

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2005

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tom 10

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nr 2

2

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Familial polyposis coli - inducing mutations in APC gene in Poland

86%

Pawlak A. L., Plawski A., Smoczkiewicz P., Kwiatkowska J., Meissner W., Krokowicz P., West S. P.

Journal of Applied Genetics

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1997

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tom 38

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nr 1

Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11-14 and the 5’ half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.

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Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease

72%

Nowakowski A., Kochanski A.

Acta Biochimica Polonica

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2004

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tom 51

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nr 1

The myelin protein zero gene (MPZ) coding for the most abundant protein of the peripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations have been shown in axonal type of CMT (CMT2). Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN). In contrast to the previously reported studies, focused on CMT1B disease, we aimed to analyze the coding and promoter sequences of the MPZ gene in a group of patients with three CMT phenotypes i.e.: CMT1, CMT2 and CHN. Over 500 PCR products were screened by single strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA). In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. In agreement with previously reported studies we conclude that MPZ gene screening should be performed for wide phenotype spectrum of CMT.

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A study of polymorphism within growth hormone gene 2 in sea trout from Polish coastal rivers using heteroduplex analysis

58%

Wlodarczyk E., Butowska A., Wenne R.

Bulletin of the Sea Fisheries Institute

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1999

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nr 3

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Bulletin of the Sea Fisheries Institute

1 Cellular and Molecular Biology Letters

1 Journal of Applied Genetics

1 Butowska A.

1 Hamano K.

1 Inoue K.

1 Kochanski A.

1 Krokowicz P.

1 Kwiatkowska J.

1 Meissner W.

1 Nishigaki K.

1 Nowakowski A.

1 Pawlak A. L.

1 Plawski A.

1 Salimullah M.

1 Smoczkiewicz P.

1 Tachibana M.

1 Wenne R.

1 West S. P.

1 Wlodarczyk E.

1 2005

1 2004

1 1999

1 1997

Efficient SNP analysis enabled by joint application of the micro TGGE and heteroduplex methods

Familial polyposis coli - inducing mutations in APC gene in Poland

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease

A study of polymorphism within growth hormone gene 2 in sea trout from Polish coastal rivers using heteroduplex analysis