Summary
Thirty-nine Turkish phenylketonuria (PKU) families were investigated for their DNA haplotypes at the phenylalanine hydroxylase (PAH) locus. There was a threefold higher incidence of consanguinity in the population studied compared with the general Turkish population. The PAH DNA haplotype 6 was found to be almost exclusively associated not only with the mutant PAH genes but also with the classic phenotype in 39% of the Turkish patients. This haplotype was of no importance in northern European populations. The two DNA haplotypes (1 and 4) that were almost equally frequent among the normal and the mutant PAH genes in northern European populations show virtually the same distribution in Turkish individuals. In all populations studied, these haplotypes are associated with different phenotypes.
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References
Blaskovics M, Schaeffler G, Hack S (1974) Phenylalaninemia: differential diagnosis. Arch Dis Child 49:835–843
Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, DiLella AG, Woo SLC (1987) Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet 76:40–46
DiLella AG, Marvit J, Lidsky AS, Güttler F, Woo SLC (1986) Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803
DiLella AG, Marvit J, Brayton K, Woo SCL (1987) An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333–336
Güttler F (1984) Phenylketonuria: 50 years since Følling's discovery and still expanding our clinical and biochemical knowledge. Acta Paediatr Scand 73:705–716
Güttler F, Ledley FD, Lidsky AS, DiLella AG, Sullivan SE, Woo SLC (1987) Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr 110:68–71
Koch R, Acosta P, Shaw KNF, Blaskovics M, Parker C, Schaeffler G, Wenz E, Wohlers A, Gortatowski M, Fishler K, Dobson J, Williamson M, Newberg P (1971) Clinical aspects of phenylketonuria. In: Bickel H, Hudson FP, Woolf LI (eds) Phenylketonuria and some other inborn errors of amino acid metabolism. Biochemistry-genetics-diagnosis-therapy. Thieme, Stuttgart, pp 20–25
Kwok SCM, Ledley FD, DiLella AG, Robson KJH, Woo SLC (1985) Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24:556–561
Lichter-Konecki U, Schlotter M, Konecki DS, Labeit S, Woo SLC, Trefz FK (1988) Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet 78:347–352
Lidsky AS, Ledley FD, DiLella AG, Kwok SCM, Daiger SP, Robson KJH, Woo SLC (1985) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619–634
Özalp I, Coskun T, Ceyhan M, Tokol S, Oran O, Erdem G, Tekinalp G, Durmus Z, Tariahya Y (1986) Incidence of phenylketonuria and hyperphenylaninaemia in a sample of the Turkish newborn population. J Inherited Metab Dis 9 [Suppl 2]:237–239
Rao CR (1973) Linear statistical inference and its applications, 2nd edn. Wiley, New York, pp 399–400
Trefz FK, Schmidt H, Bartholomé K, Mahle M, Matthis P, Pecht G (1985) Differential diagnosis and significance of various hyperphenylalaninemias. In: Bickel H, Wachtel U (eds) Inherited diseases of amino acid metabolism. Thieme Stuttgart New York, pp 86–100
Ulusoy M, Tunçbilek E (1987) Consanguineous marriages in Turkey and its effects on infant mortality. (in Turkish). Turk J Popul Stud 9:7–26
Veale AMO (1980) Screening for phenylketonuria. In: Bickel H, Guthrie R, Hammerson G (eds) Neonatal screening for inborn errors of metabolism. Springer, Berlin Heidelberg New York, pp 7–18
Vogel F, Motulsky AG (1986) Human genetics — problems and approaches, 2nd edn. Springer Berlin Heidelberg New York
Woo SLC, Lidsky AS, Güttler F, Chandra T, Robson KJH (1983) Cloned human phenylalanine hydroxylase gene allows prenatal detection of classical phenylketonuria. Nature 306:151–155
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Lichter-Konecki, U., Schlotter, M., Yaylak, C. et al. DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population. Hum Genet 81, 373–376 (1989). https://doi.org/10.1007/BF00283695
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DOI: https://doi.org/10.1007/BF00283695