Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by HENNEY, A. M.
Right arrow Articles by GRAHAME, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by HENNEY, A. M.
Right arrow Articles by GRAHAME, R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1992 British Society for Rheumatology

research-article

SEGREGATION ANALYSIS OF COLLAGEN GENES IN TWO FAMILIES WITH JOINT HYPERMOBILITY SYNDROME

A. M. HENNEY*,, D. H. BROTHERTON{dagger}, A. H. CHILD{ddagger}, S. E. HUMPHRIES* and R. GRAHAME

*The Centre for Genetics of Cardiovascular Disorders, University College and Middlesex School of Medicine, Department of Medicine, The Rayne Institute University Street, London WCI E 6JJ
{dagger}British Biotechnology Ltd 4–10 The Quadrant, Barton Lane, Abingdon, Oxon OX14 3YS
{ddagger}Departments of Histopathology and Cardiological Sciences, St George's Hospital Medical School Cranmer Terrace, London SWJ7 ORE
Department of Rheumatology, Guy's Hospital London SE1 9RT

Correspondence to: Correspondence to Dr A. Henney.

We carried out a segregation analysis comparing the inheritance of collagen gene markers and joint hypermobility syndrome in two extended families. Our results exclude the genes encoding type III (COL3A1), type V {alpha}2 chain (COL5A2) and type VI {alpha}3 chain (COL6A3) unambiguously in both families. The simultaneous exclusion of both the type I {alpha}1 and {alpha}2 chain genes in the same family was not possible: COL1A1, but not COL1A2 was excluded in one and COL1A2, but not COL1A1 was excluded in the second. There was no suggestion of strong linkage to either of these loci. These data do not support the hypothesis that JHS in these families is caused by mutations in these collagen genes.

KEY WORDS: Segregation analysis, Joint hypermobility syndrome, Collagen gene markers


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Ann Rheum DisHome page
A W Morgan, S B Pearson, S Davies, H C Gooi, and H A Bird
Asthma and airways collapse in two heritable disorders of connective tissue
Ann Rheum Dis, October 1, 2007; 66(10): 1369 - 1373.
[Abstract] [Full Text] [PDF]

Home page
 Rheumatology (Oxford)Home page
F. Malfait, A. J. Hakim, A. De Paepe, and R. Grahame
The genetic basis of the joint hypermobility syndromes
Rheumatology, May 1, 2006; 45(5): 502 - 507.
[Full Text] [PDF]

Home page
 ptjournalHome page
L. N Russek
Hypermobility Syndrome
Physical Therapy, June 1, 1999; 79(6): 591 - 599.
[Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
R. Grahame
Joint hypermobility and genetic collagen disorders: are they related?
Arch. Dis. Child., February 1, 1999; 80(2): 188 - 191.
[Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.