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[The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].
[classical phenylketonuria]
To
increase
the
success
rate
of
prenatal
diagnosis
for
classical
phenylketonuria
(
PKU
)
.
Three
new
short
tandem
repeat
(
STR
)
markers
(
PAH
26
,
PAH
32
and
PAH
9
)
within
and
surrounding
phenylalanine
hydroxylase
(
PAH
)
gene
were
selected
for
amplified
fragment
length
polymorphism
.
The
allele
frequencies
and
polymorphism
information
contests
(
PIC
)
were
determined
in
Chinese
population
.
T
he
PIC
of
these
three
new
STR
markers
was
0
.
518
(
PAH
26
)
,
0
.
413
(
PAH
32
)
and
0
.
362
(
PAH
9
)
respectively
.
There
was
linkage
disequilibrium
between
PAH
9
marker
and
PAH
-STR
marker
(
TCTA
)
n
in
the
intron
3
of
PAH
gene
.
The
linkage
phase
of
the
mutant
genes
and
the
markers
was
established
using
the
combination
of
PAH
-STR
,
PAH
26
and
PAH
32
in
95
%
families
.
Prenatal
diagnosis
was
performed
successfully
with
these
markers
in
four
cases
.
By
selecting
or
combining
the
three
STR
markers
,
the
mutant
genes
could
be
distinguished
from
the
normal
allele
in
up
to
95
%
of
families
with
classical
PKU
.
