Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.
A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase gene, a codon that thus appears to be a mutation hot spot.
Dworniczak
B
B
Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
Kalaydjieva
L
L
Aulehla-Scholz
C
C
Ullrich
K
K
Kremensky
I
I
Radeva
B
B
Horst
J
J
D001120:Arginine / Q000737:chemistry; D003062:Codon; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons; D005858:Germany; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey
D003062:Codon; D001120:Arginine; D010651:Phenylalanine Hydroxylase; C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific