Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta

• Authors: A. Galicka , A. Gindzienski
• Languages of publication: EN

Abstracts

EN

This work present a short and simple method for mutation detection in type I collagen genes, based on the direct sequencing of single-stranded DNA. The sequencing of type I collagen genes is complicated and difficult because of their large size and highly repetitive and GC-rich coding regions. Although many techniques have been developed for mutation screening in osteogenesis imperfecta (OI), they represent different degrees of sensitivity and are difficult to reproduce and too expensive for application in each laboratory. The method described here is short, easy and especially useful for sequencing of collagen genes in OI cases, in which the region with a suspected structural defect is localized by collagen analysis.

Keywords

EN

COLLAGEN; DIRECT SEQUENCING; MUTATION DETECTION; OSTEOGENESIS IMPERFECTA

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2002
• Volume: 43
• Issue: 3
• Pages: 365-369

Contributors

author

A. Galicka

author

A. Gindzienski

• Document Type: SHORT COMMUNICA
• Publication order reference: A. Galicka, Department of Medical Chemistry, Medical Academy of Bia?ystok, ul. Mickiewicza 2a, 15-230 Bia?ystok 8, Poland