Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

✍ Scribed by Jiapiao Zhuang; Gerard Tromp; Helena Kuivaniemi; Salvador Castells; Merete Bugge; Darwin J. Prockop

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 1004 KB
• Volume: 7
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1996)7:2<89::aid-humu1>3.0.co;2-k

✦ Synopsis

Communicated by Cha& I. Epstein More than 150 mutations in the genes for type I procollagein have been found in unrelated patients with osteogenesis imperfecta (01), but mutations have been difficult to define in many patients with the mildest forms of the disease. Here, we have used robotically automated sequencing of the cDNAs for type I procollagen to screen for mutations in 12 patients suspected of having nonlethal 0 1 (types I, 111, and IV). Single base mutations that changed codons for obligate glycine residues were found in seven of the patients. Altogether, we analyzed 4,379 bp of sequences of both alleles of the proal( 1) collagen (8,758 bp of allelic sequences) and 4,200 bp of sequences of both alleles of the proa2(I) collagen (8,400 bp of allelic) from each patient. o 1996 Wiley-Liss, Inc.