- Tytuł:
- 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. - Powiązania:
- https://bibliotekanauki.pl/articles/2044212.pdf
- Data publikacji:
- 1998
- Wydawca:
- Polska Akademia Nauk. Czytelnia Czasopism PAN
- Tematy:
-
intragenic polymorphic site
polymorphism
haplotype
DNA isolation
COL1A1 gene
electrophoresis
collagen
COL1A2 gene
molecular marker
osteogenesis imperfecta - Opis:
- 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.
- Źródło:
-
Journal of Applied Genetics; 1998, 39, 4; 349-365
1234-1983 - Pojawia się w:
- Journal of Applied Genetics
- Dostawca treści:
- Biblioteka Nauki
Artykuł