JOURNAL OF
APPLIED GENETICS
        
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Journal of Applied Genetics 43(3), 2002, pp. 365-369

Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta

Anna GALICKA, Andrzej GINDZIENSKI


Abstract: 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.

Key words: direct sequencing, type I collagen, osteogenesis imperfecta, mutation detection.

Correspondence: A. GALICKA, Department of Medical Chemistry, Medical Academy of Bialystok, ul. Mickiewicza 2a, 15-230 Bialystok 8, Poland, e-mail: angajko@amb.ac.bialystok.pl

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