A sequence polymorphism in the 3′-nontranslated region of the proα1 chain of type I procollagen

Westerhausen, A; Constantinou, Constantinos D.; Prockop, Darwin J.

doi:10.1093/nar/18.16.4968

Cited by 15 publications

(11 citation statements)

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“…In these instances, DNA was isolated from cultured cells and the regions surrounding a polymorphic MnlI site in the 3′ untranslated region (3′ UTR) of the COL1A1 gene were amplified and cleaved with MnlI. 23 When heterozygous, the two alleles were assayed in cDNA synthesised from mRNA by reverse transcription and amplification of the product by the polymerase chain reaction (RT-PCR) followed by digestion of the product with the same enzyme. 24 …”

Section: Clinical Evaluation and Data Collectionmentioning

confidence: 99%

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Marlowe

2002

Journal of Medical Genetics

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To evaluate if laboratory testing for osteogenesis imperfecta (OI) identifies children unrecognised by clinical examination in instances where non-accidental injury (NAI) is suspected as the likely cause of fracture, we carried out a retrospective review of available medical records and biochemical test results from 262 patients. Cultured fibroblasts were received for biochemical testing for OI from children in whom the diagnosis of NAI was suspected. Eleven of the samples had alterations in the amount or structure of type I collagen synthesised, consistent with the diagnosis of OI, and in 11 others we could not exclude OI. Referring physicians correctly identified children with OI in six of the 11 instances established by biochemical studies, did not identify OI by clinical examination in three, and there was inadequate clinical information to know in two others. Biochemical testing was inconclusive in 11 infants in whom the diagnosis of OI could not be excluded, none of whom were thought to be affected by the referring clinicians. Four children believed to have OI by clinical examination had normal biochemical studies, a false positive clinical diagnosis attributed, in large part, to the use of scleral hue (a feature that is age dependent) as a major diagnostic criterion. Given the inability to identify all children with OI by clinical examination in situations of suspected NAI, laboratory testing for OI (and other genetic predispositions for fractures) is a valuable adjunct in discerning the basis for fractures and may identify a small group of children with previously undiagnosed OI.

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Section: Clinical Evaluation and Data Collectionmentioning

confidence: 99%

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Marlowe

2002

Journal of Medical Genetics

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“…In addition, 10 other different single base changes were detected (Table 5). These other sequence variations included six polymorphisms reported previously (Constantinou et al, 1990;Westerhausen et al, 1990;Sokolov et al, 1991;Strobe1 et al, 1992;Bateman et al , 1993) and two new sequence variations in both a1 and a2 chains. Genomic DNA isolated from the cultured fibroblasts and in some cases from blood was used to confirm the mutations and all but two of the sequence variants (Table 3).…”

Section: Resultsmentioning

confidence: 82%

“…The sequence variants at nt 3,542 and 4,262 of the a1 chain were not confirmed by restriction endonucleases. The polymorphism at nt 4,566 in the 3' untranslated region of a1 (Westerhausen et al, 1990) was confirmed by digesting with MnlI. The polymorphisms at nt 329 and 3,218 (aa955) of a2 chain were confirmed as described previously (Strobe1 et al, 1992).…”

Section: Confirmation Of Point Mutations and Polymorphismsmentioning

confidence: 73%

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

et al. 1996

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More than 150 mutations in the genes for type I procollagen have been found in unrelated patients with osteogenesis imperfecta (OI), 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 OI (types I, III, 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 proα1(I) collagen (8,758 bp of allelic sequences) and 4,200 bp of sequences of both alleles of the proα2(I) collagen (8,400 bp of allelic) from each patient. © 1996 Wiley‐Liss, Inc.

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“…The polymorphism at nt3306 corresponding to amino acid 897 of the ~1 chain (Sokolov et al, 1991) was detected using Agel, which cuts the rarer allele. The polymorphism at nt4566 in the 3´ untranslated region of the ~1 cDNA (Westerhausen et al, 1990) was detected by digestion with MnII.…”

Section: Analysis Of Polymorphisms In Cdnas and Of Genomic Dnasmentioning

confidence: 99%