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. 1989 Aug;26(8):499–503. doi: 10.1136/jmg.26.8.499

Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales.

L A Tyfield 1, A L Meredith 1, M J Osborn 1, P S Harper 1
PMCID: PMC1015671  PMID: 2570158

Abstract

Using the full length cDNA probe, the RFLP haplotype patterns at the phenylalanine hydroxylase locus have been studied in the extensive and highly consanguineous Welsh Gypsy population. The pattern associated with the mutant PKU allele is identical to haplotype 4 in the northern European population. Two children with classical PKU are homozygous for this haplotype. We have tracked the mutant allele through four generations to a great grandfather who died 22 years ago. Both affected children almost certainly have inherited a double dose of the same mutant PKU allele from one common ancestor. It should be possible to identify the specific mutation that is associated with haplotype 4 which results in the more serious form of PKU.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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