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Journal of Medical Genetics 1999;36:859-860; doi:10.1136/jmg.36.11.859
Copyright © 1999 by the BMJ Publishing Group Ltd.
J Med Genet 1999;36:859-860 ( November )

Letters to the editor

Ulcerative colitis is not associated with differences in MUC2 mucin allele length

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EDITOR---The aetiology of inflammatory bowel disease (IBD) is complex and shows clear evidence of familial clustering,1-3 and genetic linkage studies suggest a number of susceptibility genes.4-12 Changes in mucin expression are a feature of IBD.13-17 In ulcerative colitis there is a depletion of mucus, while the reverse is true for Crohn's disease.18 Since the gene that encodes a major component of gel forming mucin of the large intestine, MUC2, located on 11p15.5, shows a high level of genetically determined polymorphism in length,19-21 it has been considered as a potential risk factor in IBD.22 We have previously shown that the allele lengths range in size between approximately 45 and 200 repeats as judged by cutting genomic DNA samples with the restriction enzyme HinfI.19 This corresponds to apomucin sizes ranging from Mr 400-760 000. It is our hypothesis that these differences have a functional significance by changing the properties of the mucins . . . [Full text of this article]


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