+ 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

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1



A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1



Human Genetics 87(6): 739-741



A deletion of a single base in codon 55 (exon 2) of the phenylalanine hydroxylase (PAH) gene has been identified by direct DNA sequencing of 94 phenylketonuria (PKU) chromosomes. This mutation alters the reading frame so that a stop signal (TAA) is generated in codon 60 of the PAH gene. Haplotype analysis revealed that all PKU alleles showing the codon 55 frameshift mutation exhibited haplotype 1. In our panel of DNA probes 13% of all mutant haplotype 1 alleles carry this particular mutation. Patients who were compound heterozygotes for this deletion and R408W in exon 12, or the splice mutation in intron 12, were affected by severe PKU. Thus, the clinical data provide additional evidence that haplotype 1 PKU alleles carry molecular defects which confer a null phenotype. In addition, we were able to show that the newly detected mutation occurs on alleles of different ethnic background.

Please choose payment method:






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

Accession: 039063959

Download citation: RISBibTeXText

PMID: 1682235

DOI: 10.1007/bf00201738


Related references

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

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

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online. Human Mutation 14(1): 90-91, 1999

Mis sense mutation associated with rflp haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Journal of Cellular Biochemistry Supplement (13 PART E): 300, 1989

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

A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population. Human Mutation 2(1): 74-76, 1993

Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria. Clinical Chemistry 39(11 Pt 1): 2357-2357, 1993

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?. Human Mutation 1(2): 138-146, 1992

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. Human Mutation 10(3): 258-259, 1997

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families. Human Genetics 92(6): 588-592, 1993

Identification of a mutation in the 12th exon of the phenylalanine hydroxylase gene in patients with phenylketonuria. Bioorganicheskaya Khimiya 15(12): 1690-1692, 1989

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria. Human Genetics 108(1): 14-19, January, 2001

Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16(1): 9-11, 1999

Phenylalanine hydroxylase gene novel missense mutation in exon 7 causing severe phenylketonuria. Genomics 9(1): 193-199, 1991