de Groote, J; Farndon, PA; Kilpatrick, MV; de Paepe, A; Oorthuys, JW; Nevin, NC; Child, AH; Pope, FM
(1990)
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
J Med Genet, 27 (2).
82 - 85.
ISSN 0022-2593
SGUL Authors: Child, Anne Hawthorne
Abstract
Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.
| Item Type: | Article | ||||
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| Additional Information: | PMCID: PMC1016925 | ||||
| Keywords: | Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 11, Female, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Marfan Syndrome, Pedigree, Phenotype, Polymorphism, Restriction Fragment Length | ||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cardiac (INCCCA) |
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| Journal or Publication Title: | J Med Genet | ||||
| ISSN: | 0022-2593 | ||||
| PubMed ID: | 1969489 | ||||
| Web of Science ID: | 1969489 | ||||
| Dates: |
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/2564 |
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