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[The human genome--chromosome 12].
[classical phenylketonuria]
One
of
the
most
rewarding
examples
for
teaching
hereditary
metabolic
disorders
is
classical
phenylketonuria
(
PKU
)
caused
by
the
deficient
function
of
phenylalanine
hydroxylase
,
the
locus
of
which
(
PAH
)
is
on
the
long
arm
of
the
twelfth
chromosome
.
The
twelfth
chromosome
has
also
the
locus
(
VWF
,
F
8
VWF
)
the
pathogenic
alleles
of
which
cause
impaired
blood
clotting--
Willebrand
's
disease
and
it
is
at
the
same
time
also
the
site
of
the
family
of
keratin
genes
(
KRT
)
responsible
for
epidermolysis
bullosa
simplex
and
other
diseases
.
The
question
of
the
relationship
between
membrane
glucose
transmitters--
GLUT
and
diabetes
(
NIDDM
)
is
the
subject
of
many
investigations
concerned
with
these
loci
.
