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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1996-9-20
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pubmed:abstractText |
We have investigated one member of a family with dominant osteogenesis imperfecta type IV through three generations. In protein-chemical studies of cultured fibroblasts derived from the proband, collagen I was overmodified, with normal processing of procollagen I, normal thermal stability, and a cyanogen bromide peptide map that suggested a C-terminal location of the structural abnormality in the collagen triple helix. Sequencing of the gene encoding the alpha2(I) chain of collagen I (COL1A2) indicated a nine base-pair deletion of nucleotides 3418-3426. When a polymerase chain reaction product containing the nucleotides in question was electrophoresed in a 12% polyacrylamide gel, two bands with a difference in size of nine base pairs could be shown. Sequencing of the molecular weight band confirmed the deletion of the nine base pairs involving codons 1003-1006 of COL1A2. The deletion introduced a SfiI restriction site that was used for confirmation of the deletion in genomic DNA from the proband. The deletion resulted in the removal of three amino acids (Gly-Pro-Pro), but this did not disrupt the Gly-X-Y sequence of the collagen triple helix, as is often the case in the more common glycine substitutions. We discuss the ways in which this deletion could result in osteogenesis imperfecta.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
97
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
287-90
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8786065-Adult,
pubmed-meshheading:8786065-Base Sequence,
pubmed-meshheading:8786065-Female,
pubmed-meshheading:8786065-Humans,
pubmed-meshheading:8786065-Molecular Sequence Data,
pubmed-meshheading:8786065-Osteogenesis Imperfecta,
pubmed-meshheading:8786065-Peptide Fragments,
pubmed-meshheading:8786065-Polymerase Chain Reaction,
pubmed-meshheading:8786065-Procollagen,
pubmed-meshheading:8786065-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:8786065-Sequence Deletion
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pubmed:year |
1996
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pubmed:articleTitle |
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV.
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pubmed:affiliation |
Department of Clinical Genetics, Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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