[Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer].
Mutations were studied in phenylalanine hydroxylase gene of phenylketonuria patients from Kemerovo oblast and Altaiskii krai (15 and 2 families, respectively). The following mutations were identified in exons of this gene: R408W, R261Q, R243Q, Y414C, Y386C, P281L, Y168H, R68S (lead to amino acid substitutions), R243X (leads to stop codon formation), and three splice site mutations (IVS12nt 1g-->a, IVS2nt-13t-->g, IVS7nt 1g-->a).
Smagulova
F O
FO
Novosibirsk Institute of Bioorganic Chemistry, Novosibirsk, 630090 Russia.
Brenner
E V
EV
Kotova
L Iu
LIu
Koren'
O L
OL
Nagaĭtsev
V M
VM
Zhabin
S G
SG
Morozov
I V
IV
D001331:Automation; D001483:Base Sequence; D018388:Codon, Terminator; D017931:DNA Primers; D005091:Exons; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000295:instrumentation*
D018388:Codon, Terminator; D017931:DNA Primers; D010651:Phenylalanine Hydroxylase