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

• Autorzy: Kostyk E , Sucharski P. , Pietrzyk J.J. , Kruczek A.
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

intragenic polymorphic site; polymorphism; haplotype; DNA isolation; COL1A1 gene; electrophoresis; collagen; COL1A2 gene; molecular marker; osteogenesis imperfecta

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 1998
• Tom: 39
• Numer: 4
• Opis fizyczny: p.349-365,fig.

Twórcy

autor

Kostyk E

• Collegium Medicum Jagiellonian University, Wielicka 265, 30-663 Krakow, Poland

autor

Sucharski P.

autor

Pietrzyk J.J.

autor

Kruczek A.

Bibliografia

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