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Figure |
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The Land
Between Mendelian and Multifactorial
Inheritance |
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Volume 18,
Issue 1, 2002 |
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One
mutation too many.
Complex
inheritance in Bardet-Biedl syndrome. Two allelic mutations in one BBS
gene and a third mutation in another BBS gene are required for the disease
phenotype to become manifest. The question is, what molecular interactions
underlie the formation of the BBS phenotype? Three of the six BBS genes
have been identified: BBS2 encodes a protein of unknown function, BBS6 is
a putative chaperone, and BBS4 may be a glucosamine transferase. Three
more BBS loci have been defined by linkage, although the genes have yet to
be identified. |
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 Burghes
AHM, et al. Science 293:2213-2214,2001. |
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