SORA

Advancing, promoting and sharing knowledge of health through excellence in teaching, clinical practice and research into the prevention and treatment of illness

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

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

Full text not available from this repository.

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
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)
Journal or Publication Title: J Med Genet
ISSN: 0022-2593
Dates:
DateEvent
February 1990Published
PubMed ID: 1969489
Web of Science ID: 1969489
Download EPMC Full text (PDF)
Download EPMC Full text (HTML)
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/2564

Actions (login required)

Edit Item Edit Item