IDENTIFICATION OF A NEW MISSENSE MUTATION IN JAPANESE PHENYLKETONURICPATIENTS

Citation
B. Goebelschreiner et R. Schreiner, IDENTIFICATION OF A NEW MISSENSE MUTATION IN JAPANESE PHENYLKETONURICPATIENTS, Journal of inherited metabolic disease, 16(6), 1993, pp. 950-956
Citations number
22
Categorie Soggetti
Endocrynology & Metabolism
ISSN journal
01418955
Volume
16
Issue
6
Year of publication
1993
Pages
950 - 956
Database
ISI
SICI code
0141-8955(1993)16:6<950:IOANMM>2.0.ZU;2-U
Abstract
A new missense mutation in the phenylalanine hydroxylase (PAH) gene wa s identified in 20/30 members of the families of 10 unrelated Japanese phenylketonuria (PKU) patients from Kyushu island. The point mutation was present in 20 of 40 mutant alleles, This was proved by DNA sequen ce analysis after polymerase chain reaction (PCR) amplification and al lele-specific oligonucleotide (ASO) hybridization. This point mutation , an A to G transition at the first base of codon 276 in exon 7, resul ted in an amino acid substitution. Methionine was replaced by valine a nd the mutation was found to be associated with restriction fragment l ength polymorphism (RFLP) haplotype 4 in the investigated patients. Th e mutation was not found in 24 unrelated Caucasian patients from diffe rent countries. These findings may indicate a founder effect in the tr ansmission of the mutation.