Osteogenesis imperfecta type VII maps to the short arm of chromosome 3.
We have identified a novel form of autosomal recessive osteogenesis imperfecta (OI) in a small First Nations community from northern Quebec. Mutation screening of the COL1A1/COL1A2 genes revealed no detectable mutations, and type I collagen protein analyses were also normal. By linkage analysis, we...
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ftciteseerx:oai:CiteSeerX.psu:10.1.1.1054.7691 2023-05-15T16:16:28+02:00 Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. M Labuda J Morissette L M Ward F Rauch L Lalic P J Roughley F H Glorieux The Pennsylvania State University CiteSeerX Archives 2002 application/pdf http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.7691 http://s3.amazonaws.com/publicationslist.org/data/frauch/ref-25/Labuda%20linkage%20in%20OI-7%20%20BONE%207-2002.pdf en eng http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.7691 http://s3.amazonaws.com/publicationslist.org/data/frauch/ref-25/Labuda%20linkage%20in%20OI-7%20%20BONE%207-2002.pdf Metadata may be used without restrictions as long as the oai identifier remains attached to it. http://s3.amazonaws.com/publicationslist.org/data/frauch/ref-25/Labuda%20linkage%20in%20OI-7%20%20BONE%207-2002.pdf text 2002 ftciteseerx 2020-04-12T00:20:27Z We have identified a novel form of autosomal recessive osteogenesis imperfecta (OI) in a small First Nations community from northern Quebec. Mutation screening of the COL1A1/COL1A2 genes revealed no detectable mutations, and type I collagen protein analyses were also normal. By linkage analysis, we mapped this unique autosomal recessive variant of osteogenesis imperfecta to chromosome 3p22-24.1. Based on the assumption of a founder effect, genome-wide screening was performed on a DNA sample pooled from seven affected individuals. Familial as well as historical recombinations identified within an extended haplotype of 19 markers localized the disease between markers D3S2324 and D3S1561, separated by <5 cM. Based on chromosomal localization to 3p22-24.1, the transforming growth factor- receptor 2 gene and the parathyroid hormone/parathyroid hormone-related peptide receptor were tested, but were excluded as being associated with the phenotype. This study excludes type I collagen mutations in the pathogenesis of the disease and assigns this form of OI to a locus other than the ones containing the type I collagen genes. Text First Nations Unknown |
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description |
We have identified a novel form of autosomal recessive osteogenesis imperfecta (OI) in a small First Nations community from northern Quebec. Mutation screening of the COL1A1/COL1A2 genes revealed no detectable mutations, and type I collagen protein analyses were also normal. By linkage analysis, we mapped this unique autosomal recessive variant of osteogenesis imperfecta to chromosome 3p22-24.1. Based on the assumption of a founder effect, genome-wide screening was performed on a DNA sample pooled from seven affected individuals. Familial as well as historical recombinations identified within an extended haplotype of 19 markers localized the disease between markers D3S2324 and D3S1561, separated by <5 cM. Based on chromosomal localization to 3p22-24.1, the transforming growth factor- receptor 2 gene and the parathyroid hormone/parathyroid hormone-related peptide receptor were tested, but were excluded as being associated with the phenotype. This study excludes type I collagen mutations in the pathogenesis of the disease and assigns this form of OI to a locus other than the ones containing the type I collagen genes. |
author2 |
The Pennsylvania State University CiteSeerX Archives |
format |
Text |
author |
M Labuda J Morissette L M Ward F Rauch L Lalic P J Roughley F H Glorieux |
spellingShingle |
M Labuda J Morissette L M Ward F Rauch L Lalic P J Roughley F H Glorieux Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. |
author_facet |
M Labuda J Morissette L M Ward F Rauch L Lalic P J Roughley F H Glorieux |
author_sort |
M Labuda |
title |
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. |
title_short |
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. |
title_full |
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. |
title_fullStr |
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. |
title_full_unstemmed |
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. |
title_sort |
osteogenesis imperfecta type vii maps to the short arm of chromosome 3. |
publishDate |
2002 |
url |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.7691 http://s3.amazonaws.com/publicationslist.org/data/frauch/ref-25/Labuda%20linkage%20in%20OI-7%20%20BONE%207-2002.pdf |
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First Nations |
genre_facet |
First Nations |
op_source |
http://s3.amazonaws.com/publicationslist.org/data/frauch/ref-25/Labuda%20linkage%20in%20OI-7%20%20BONE%207-2002.pdf |
op_relation |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.7691 http://s3.amazonaws.com/publicationslist.org/data/frauch/ref-25/Labuda%20linkage%20in%20OI-7%20%20BONE%207-2002.pdf |
op_rights |
Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
_version_ |
1766002322281857024 |