Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
✍ Scribed by Ranaiit Chakraborty; Alan S. Lidsky; Stephen P. Daiger; Flemming Güttler; Susan Sullivan; Anthony G. Dilella; Savio L. C. Woo
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 817 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0340-6717
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A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from
RFLPs of 36 normal and 41 mutant alleles at the phenylalanine hydroxylase locus were determined in 31 Portuguese kindreds. A total of 14 haplotypes including 10 normal and 7 mutant alleles were observed. Almost 75% of all mutant alleles were confined within only two haplotypes, namely haplotype 9 (1