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

• Authors: E. Kostyk , P. Sucharski , J. Pietrzyk , A. Kruczek

Abstracts

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.

Keywords

EN

COL1A1 GENE; COL1A2 GENE; OSTEOGENESIS IMPERFECTA

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 1998
• Volume: 39
• Issue: 4
• Pages: 349-365

Contributors

author

E. Kostyk

author

P. Sucharski

author

J. Pietrzyk

author

A. Kruczek

• Publication order reference: E. Kostyk, Department of Genetics, Polish-American Children's Hospital, Collegium Medicum Jagiellonian University, ul. Wielicka 265, 30-663 Krakow, Poland.