albinism

Dann Paul Siems siems001 at maroon.tc.umn.edu
Thu Mar 17 20:45:46 EST 1994


Hi everyone --

I am hoping someone out there in biocyberspace can help me out.  I have a
student in a independent study course (Heredity and Human Society) who has
albinism and severe visual impairment.  She has a son who is also albino
with moderate visual impairment.  The boy's father is black and normally
pigmented.  For obvious reason, my student is very interested in
understanding the genetic foundations of albinism.  I have told her what I
know (e.g. that it is a recessive condition that is the result of a
mutation in a gene for one of the enzymes that convert tyrosine --> DOPA
--> melanin).  My questions:  what, if anything, is the nature of the link
between albinism and the visual impairment?  Is albinism sex-linked or was
her son's father a heterozygous carrier?  What is the nature of the
responsible mutation (ie. is it the result of a single base pair
substitution)?  This and any other details of the genetics and ontogeny of
this condition would be most sincerely appreciated by my student (any by
myself since she really perked my curiousity as well!)
 

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Dann Siems                   |
Ecology/Evolution/Behavior   |   Without speculation there can be no good    
University of Minnesota      |      and original observation. <Darwin>
Saint Paul MN 55108          |
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