+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene



Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene



Somatic Cell and Molecular Genetics 16(1): 85-90



Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase (PAH). Several mutations in the PAH gene have recently been reported, and linkage disequilibrium was observed between RFLP haplotypes and specific mutations. A new molecular lesion has been identified in exon 7 of the PAH gene in a Hungarian PKU patient by direct sequencing of PCR-amplified DNA. The C-to-T transition causes the substitution of Arg243 to a termination codon, and the mutant allele is associated with haplotype 4 of the PAH gene. The mutation is present in two of nine mutant haplotype 4 alleles among Eastern Europeans and is not present among Western Europeans and Asians. The rarity of this mutant allele and its restricted geographic distribution suggest that the mutational event occurred recently on a normal haplotype 4 background in Eastern Europe.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 040725272

Download citation: RISBibTeXText

PMID: 2309142

DOI: 10.1007/bf01650483


Related references

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene. American Journal of Human Genetics 45(5): 675-680, 1989

Molecular genetics of phenylketonuria in Orientals--linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae 13(1): 1-6, 1991

A nonsense mutation associated with rflp haplotype 4 of the human phenylalanine hydroxylase gene in the chinese population. FASEB Journal 3(3): A328, 1989

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene. Human Genetics 87(6): 731-733, 1991

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1. Human Genetics 87(6): 739-741, 1991

Phenylketonuria in the greek populations haplotype analysis of the phenylalanine hydroxylase gene and identification of a pku mutation. Molecular Biology & Medicine 6(3): 245-250, 1989

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. American Journal of Human Genetics 44(4): 511-517, 1989

Molecular genetics analysis of mutations and minihaplotypes of the phenylalanine hydroxylase gene in Ukraine. Biopolimery i Kletka 17(6): 556-559, November-December, 2001

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. Journal of Medical Genetics 30(3): 228-231, 1993

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Human Genetics 78(4): 347-352, 1988

A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria. Genetika 29(5): 862-865, 1993

Does severity of mutation in the phenylalanine hydroxylase gene influence phenylalanine and tyrosine metabolism in heterozygotes?. Journal of Inherited Metabolic Disease 20(SUPPL 1): 16, 1997

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. Journal of Medical Genetics 34(11): 893-898, 1997

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes. Journal of Inherited Metabolic Disease 17(2): 215-222, 1994

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in italy. Human Genetics 86(1): 69-72, 1990