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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. J., Kruczek A.

Journal of Applied Genetics

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1998

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tom 39

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nr 4

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.

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Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida

100%

Pietrzyk J. J., Bik-Multanowski M., Sanak M., Twardowska M.

Journal of Applied Genetics

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2003

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tom 44

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nr 1

3

Ocena stężenia kadmu we krwi dzieci krakowskich i województwa krośnieńskiego

88%

Huzior-Balajewicz A., Pietrzyk J. J., Barton H., Schlegel-Zawadzka M., Zachwieja Z.

Zeszyty Problemowe Postępów Nauk Rolniczych

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1997

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tom 448a

4

Impact of Hymenoptera venom allergy and the effects of specific venom immunotherapy on mast cell metabolites in sensitized children

88%

Cichocka-Jarosz E., Sanak M., Szczeklik A., Brzyski P., Pietrzyk J. J.

Annals of Agricultural and Environmental Medicine

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2014

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tom 21

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nr 2

5

Molecular studies in osteogenesis imperfecta [OI] I. Clinical analysis of patients with osteogenesis imperfecta

88%

Pietrzyk J. J., Kruczek A., Kostyk E., Sucharski P., Piatkowska E.

Journal of Applied Genetics

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1998

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tom 39

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nr 4

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.

6

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

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1998

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tom 39

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nr 4

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.

7

Relationships between lead in blood and hair and childrens' development factors population studies in the Krakow and Krosno regions

76%

Pietrzyk J. J., Huzior-Balajewicz A., Piatkowska E., Schlegel-Zawadzka M., Zachwieja Z., Chlopicka J., Barton H.

Biological Bulletin of Poznań. Supplement

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1996

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tom 33

8

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

64%

Augusciak-Duma A., Witecka J., Sieron A. L., Janeczko M., Pietrzyk J. J., Ochman K., Galicka A., Boeszewska-Kornacka M. K., Pilch J., Jakubowska-Pietkiewicz E.

Acta Biochimica Polonica

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2018

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tom 65

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nr 1

9

Two novel COL1A1 mutations in patients with osteogenesis imperfecta [OI] affect the stability of the collagen type I triple-helix

64%

Witecka J., Augusciak-Duma A. M., Kruczek A., Szydlo A., Lesiak M., Krzak M., Pietrzyk J. J., Mannikko M., Sieron A. L.

Journal of Applied Genetics

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2008

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tom 49

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nr 3

283-295

Osteogenesis imperfecta (OI) is a bone dysplasia caused by mutations in the COLIA1 and COL1A2 genes. Although the condition has been intensely studied for over 25 years and recently over 800 novel mutations have been published, the relation between the location of mutations and clinical manifestation is poorly understood. Here we report missense mutations in COLIA1 of several OI patients. Two novel mutations were found in the D1 period. One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34°C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5°C. Two other mutations, reported before, changed amino residues in D4. One was a lethal substitution changing glycine 866 to serine in genetically identical twins with OI type II. That mutated amino acid was near the border of D3 and D4. The second mutation changed glycine 1040 to serine located at the border of D4 and DO.4, in a proband manifesting OI type III, and lowered collagen stability at 39°C (2°C lower than normal). Our results confirm the hypothesis on a critical role of the D1 and D4 regions in stabilization of the collagen triple-helix. The defect in D1 seemed to produce a milder clinical type of OI, whereas the defect in the C-terminal end of collagen type caused the more severe or lethal types of OI.

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Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

52%

Bik-Multanowski M., Kaluzny L., Mozrzymas R., Oltarzewski M., Starostecka E., Lange A., Didycz B., Gizewska M., Ulewicz-Filipowicz J., Chrobot A., Mikoluc B., Szymczakiewicz-Multanowska A., Cichy W., Pietrzyk J. J.

Acta Biochimica Polonica

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2013

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tom 60

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nr 4

Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.

Ograniczanie wyników

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

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida

Ocena stężenia kadmu we krwi dzieci krakowskich i województwa krośnieńskiego

Impact of Hymenoptera venom allergy and the effects of specific venom immunotherapy on mast cell metabolites in sensitized children

Molecular studies in osteogenesis imperfecta [OI] I. Clinical analysis of patients with osteogenesis imperfecta

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

Relationships between lead in blood and hair and childrens' development factors population studies in the Krakow and Krosno regions

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

Two novel COL1A1 mutations in patients with osteogenesis imperfecta [OI] affect the stability of the collagen type I triple-helix

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness