Ask A Scientist© Molecular Biology Archive

name       Diana
status     student
age        60s

Question - What is wrong with the genes associated with albinism?
For example with huntington's the gene is too big. What
is wrong with the albinism genes?

Albinism is caused by a loss-of-function mutation. That means the gene is
either missing altogether, missing some important part, or has a change at
some crucial point in the gene that eliminates its function. There may
not be an obvious change in the size of the gene at all. One tiny
substitution within the gene can result in the necessary change.

Christine Ticknor
Ph.D. student
Yale University
New Haven, Connecticut
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Albinism is a widely distributed genetic variation..."wrong" is an
inappropriate word probably. In flowers some "albino" forms are the norm
and the colored specimens are the variants. In animals the opposite is
usually the case. In humans I am not sure what the change in the gene
sequence is but I would guess it might be a frame shift....but that is just
a guess.

pf
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