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Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta

100%

Galicka A., Gindzienski A.

Journal of Applied Genetics

2002

vol. 43

issue 3

365-369

This work present a short and simple method for mutation detection in type I collagen genes, based on the direct sequencing of single-stranded DNA. The sequencing of type I collagen genes is complicated and difficult because of their large size and highly repetitive and GC-rich coding regions. Although many techniques have been developed for mutation screening in osteogenesis imperfecta (OI), they represent different degrees of sensitivity and are difficult to reproduce and too expensive for application in each laboratory. The method described here is short, easy and especially useful for sequencing of collagen genes in OI cases, in which the region with a suspected structural defect is localized by collagen analysis.

Dasatinib treatment can overcome imatinib and nilotinib resistance in CML patient carrying F359I mutation of BCR-ABL oncogene

88%

Baranska M., Lewandowski K., Gniot M., Iwola M., Lewandowska., Komarnicki M.

Journal of Applied Genetics

2008

vol. 49

issue 2

201-203

Point mutations of bcr-abl tyrosine kinase are the most frequent causes of imatinib resistance in chronic myeloid leukaemia (CML) patients. In most CML cases with BCR-ABL mutations leading to imatinib resistance the second generation of tyrosine kinase inhibitors (TKI- e.g. nilotinib or dasatinib) may be effective. Here, we report a case of a CML patient who during imatinib treatment did not obtain clinical and cytogenetic response within 12 months of therapy. The sequencing of BCR-ABL kinase domains was performed and revealed the presence of a F359I point mutation (TTC-to-ATC nucleotide change leading to Phe-to-Ile amino acid substitution). After 1 month of nilotinib therapy a rapid progression of clinical symptoms was observed. In the presence of the F359I point mutation only dasatinib treatment overcame imatinib and nilotinib resistance.

Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations

88%

Sikorska A., Traczyk T. Z., Traczyk Z., Konopka K. L., Konopka L., Fiszer-Maliszewska F.-M. L., Fiszer-Maliszewska L., Wojciechowska W. B., Wojciechowska B., Pienkowska-Grela P.-G. B., Pienkowska-Grela B., Rygier R. J., Rygier J., Woroniecka W. R., Woroniecka R., Witkowska W. A., Witkowska A., Rusin R. M., Rusin M.

Journal of Applied Genetics

2001

vol. 42

issue 3

379-384

Li-Fraumeni syndrome is a rare autosomal, dominant trait of diverse types of cancers in children and young adults, with a predominance of soft tissue sarcomas, osteosarcomas, brain tumours, adrenocortical and breast carcinomas, as well as leukaemias. We present a family with an unusual cancer history fulfilling the criteria of Li-Fraumeni syndrome. Mutational analysis of the p53 gene in constitutional DNA of several affected members of the family did not show any germline p53 defect. Cytogenetic studies did not reveal any structural aberrations.

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3 Journal of Applied Genetics

1 2008

1 2002

1 2001

1 Baranska M.

1 Fiszer-Maliszewska F.-M. L.

1 Fiszer-Maliszewska L.

1 Galicka A.

1 Gindzienski A.

1 Gniot M.

1 Iwola M.

1 Komarnicki M.

1 Konopka K. L.

1 Konopka L.

1 Lewandowska.

1 Lewandowski K.

1 Pienkowska-Grela B.

1 Pienkowska-Grela P.-G. B.

1 Rusin M.

1 Rusin R. M.

1 Rygier J.

1 Rygier R. J.

1 Sikorska A.

1 Traczyk T. Z.

1 Traczyk Z.

1 Witkowska A.

1 Witkowska W. A.

1 Wojciechowska B.

1 Wojciechowska W. B.

1 Woroniecka R.

1 Woroniecka W. R.

Search results

Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta

Dasatinib treatment can overcome imatinib and nilotinib resistance in CML patient carrying F359I mutation of BCR-ABL oncogene

Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations