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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

1998

tom 39

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.

Ograniczanie wyników

1 Journal of Applied Genetics

1 Kostyk E.

1 Kruczek A.

1 Pietrzyk J. J.

1 Sucharski P.

1 1998

Wyniki wyszukiwania

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