Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper sca...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1995
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| _version_ | 1797105812728971264 |
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| author | Loughlin, J Irven, C Hardwick, L Butcher, S Walsh, S Wordsworth, P Sykes, B |
| author_facet | Loughlin, J Irven, C Hardwick, L Butcher, S Walsh, S Wordsworth, P Sykes, B |
| author_sort | Loughlin, J |
| collection | OXFORD |
| description | Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gene has been linked to EDS II, nor has linkage been established to a specific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of 8.3 at theta = 0.00 was generated for a single large pedigree. |
| first_indexed | 2024-03-07T06:52:44Z |
| format | Journal article |
| id | oxford-uuid:fd14cc2b-3fe0-42ef-b8d0-8e0a05352c14 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T06:52:44Z |
| publishDate | 1995 |
| record_format | dspace |
| spelling | oxford-uuid:fd14cc2b-3fe0-42ef-b8d0-8e0a05352c142022-03-27T13:26:13ZLinkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:fd14cc2b-3fe0-42ef-b8d0-8e0a05352c14EnglishSymplectic Elements at Oxford1995Loughlin, JIrven, CHardwick, LButcher, SWalsh, SWordsworth, PSykes, BEhlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gene has been linked to EDS II, nor has linkage been established to a specific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of 8.3 at theta = 0.00 was generated for a single large pedigree. |
| spellingShingle | Loughlin, J Irven, C Hardwick, L Butcher, S Walsh, S Wordsworth, P Sykes, B Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). |
| title | Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). |
| title_full | Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). |
| title_fullStr | Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). |
| title_full_unstemmed | Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). |
| title_short | Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). |
| title_sort | linkage of the gene that encodes the alpha 1 chain of type v collagen col5a1 to type ii ehlers danlos syndrome eds ii |
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