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Molecular studies in osteogenesis imperfecta (OI).II. Evaluation of intragenic polymorphic sites in COL1A1 and COL1A2 loci

100%
Kostyk E., Sucharski P., Pietrzyk J., Kruczek A.
Journal of Applied Genetics
|
1998
|
vol. 39
|
issue 4
349-365
EN
The goal of the study was to evaluate intragenic polymorphic sites in COL1A1 and COL1A2 loci. For COL1A1 the following intragenic markers were used: PCR-RFLP (COL1A1), G/A polymorphism in exon 45 of COL1A1 and C/T polymorphism in +88 position of COL1A1 non-translatable 3' end. For COL1A2 PCR-VNTR was analyzed. 17 families were examined (6 of the 'simplex' type and 11 of the 'multiple' type). In 8 out of 11 'multiplex' families the segregation of the markers revealed correlation with OI, whereas the other 3 were non-informative. The method was not useful in 'simplex' families.
2

Molecular studies in osteogenesis imperfecta (OI). I. Clinical analysis of patients with osteogenesis imperfecta

100%
Pietrzyk J. J., Kruczek A., Sucharski P., Piatkowska E.
Journal of Applied Genetics
|
1998
|
vol. 39
|
issue 4
331-348
EN
The goal of this study is to develop optimal diagnostic methods for osteogenesis imperfecta (OI), which will allow to distinguish familial from spontaneous cases and can be used in prenatal diagnostics as well. The paper summarizes the clinical part of the study, in which 69 families were analyzed. The families with OI were registered, their pedigrees were studied, a clinical classification of the disease was carried out and the dermatoglyphics of the affected patients were analyzed. Based on the above results a diagnostic algorithm was elaborated.
3

Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

88%
Sucharski P., Sanak M., Kostyk E., Pietrzyk J. J., Kruczek A.
Journal of Applied Genetics
|
1998
|
vol. 39
|
issue 4
367-373
EN
A BESS-T-Scan analysis of cDNA COL1A1 and COL1A2 obtained by RT-PCR derived from five patients with sporadic forms of ostegenesis imperfecta was performed. The study was done in four patients with type I and one patient with type III OI. The analysis revealed the presence of structural changes in two regions of cDNA COL1A1 in two patients. No quantitative changes referring to COL1A2 gene were noted in any patient. The above analysis was the first application of the BESS-T-Scan technique in a molecular diagnosis of OI. The applied method seems to be useful and fulfil the basic criteria of the screening method to detect and locate mutations.
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