Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl

PL EN


Preferences help
enabled [disable] Abstract
Number of results
1998 | 39 | 4 | 349-365

Article title

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

Title variants

Languages of publication

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.

Discipline

Year

Volume

39

Issue

4

Pages

349-365

Physical description

Contributors

author
author
author
author

References

Document Type

Publication order reference

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

Identifiers

YADDA identifier

bwmeta1.element.element-from-psjc-4344fd61-3734-3776-9c8a-a84fc0fc9f18
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.