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. 1989 Mar;44(3):382–387.

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.

M Hertzberg 1, K Jahromi 1, V Ferguson 1, H H Dahl 1, J Mercer 1, K N Mickleson 1, R J Trent 1
PMCID: PMC1715431  PMID: 2563633

Abstract

A total of 630 haplotypes for the phenylalanine hydroxylase (PAH) gene locus were established in five groups of Polynesians comprising Samoans, Tongans, Cook Islanders, Maori, and Niueans. Considerable genetic continuity was demonstrated between these widely dispersed populations, since three common haplotypes (4, 1, and 7) constituted over 95% of alleles. A control group of individuals from Southeast Asia shared the same major haplotypes, 4, 1, and 7, with Polynesians. These data provide further support for the theories of genetic homogeneity and of Asian affinities of the Polynesian precursor populations. The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians.

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Selected References

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

  1. Chakraborty R., Lidsky A. S., Daiger S. P., Güttler F., Sullivan S., Dilella A. G., Woo S. L. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet. 1987 May;76(1):40–46. doi: 10.1007/BF00283048. [DOI] [PubMed] [Google Scholar]
  2. Daiger S. P., Lidsky A. S., Chakraborty R., Koch R., Güttler F., Woo S. L. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. Lancet. 1986 Feb 1;1(8475):229–232. doi: 10.1016/s0140-6736(86)90771-3. [DOI] [PubMed] [Google Scholar]
  3. DiLella A. G., Huang W. M., Woo S. L. Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet. 1988 Mar 5;1(8584):497–499. doi: 10.1016/s0140-6736(88)91295-0. [DOI] [PubMed] [Google Scholar]
  4. DiLella A. G., Marvit J., Brayton K., Woo S. L. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. 1987 May 28-Jun 3Nature. 327(6120):333–336. doi: 10.1038/327333a0. [DOI] [PubMed] [Google Scholar]
  5. DiLella A. G., Marvit J., Lidsky A. S., Güttler F., Woo S. L. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. 1986 Aug 28-Sep 3Nature. 322(6082):799–803. doi: 10.1038/322799a0. [DOI] [PubMed] [Google Scholar]
  6. Güttler F., Ledley F. D., Lidsky A. S., DiLella A. G., Sullivan S. E., Woo S. L. Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr. 1987 Jan;110(1):68–71. doi: 10.1016/s0022-3476(87)80290-1. [DOI] [PubMed] [Google Scholar]
  7. Hertzberg M. S., Mickleson K. N., Trent R. J. Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangements. Am J Hum Genet. 1988 Dec;43(6):971–977. [PMC free article] [PubMed] [Google Scholar]
  8. Higgs D. R., Wainscoat J. S., Flint J., Hill A. V., Thein S. L., Nicholls R. D., Teal H., Ayyub H., Peto T. E., Falusi A. G. Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci U S A. 1986 Jul;83(14):5165–5169. doi: 10.1073/pnas.83.14.5165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Kohonen-Corish M. R., Serjeantson S. W. RFLP analysis of HLA-DR and -DQ genes and their linkage relationships in the Pacific. Am J Hum Genet. 1986 Dec;39(6):751–762. [PMC free article] [PubMed] [Google Scholar]
  10. Kwok S. C., Ledley F. D., DiLella A. G., Robson K. J., Woo S. L. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 1985 Jan 29;24(3):556–561. doi: 10.1021/bi00324a002. [DOI] [PubMed] [Google Scholar]
  11. Lichter-Konecki U., Schlotter M., Konecki D. S., Labeit S., Woo S. L., Trefz F. K. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet. 1988 Apr;78(4):347–352. doi: 10.1007/BF00291733. [DOI] [PubMed] [Google Scholar]
  12. Lidsky A. S., Güttler F., Woo S. L. Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet. 1985 Mar 9;1(8428):549–551. doi: 10.1016/s0140-6736(85)91208-5. [DOI] [PubMed] [Google Scholar]
  13. Lidsky A. S., Ledley F. D., DiLella A. G., Kwok S. C., Daiger S. P., Robson K. J., Woo S. L. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet. 1985 Jul;37(4):619–634. [PMC free article] [PubMed] [Google Scholar]
  14. Scriver C. R., Clow C. L. Phenylketonuria: epitome of human biochemical genetics (second of two parts). N Engl J Med. 1980 Dec 11;303(24):1394–1400. doi: 10.1056/NEJM198012113032404. [DOI] [PubMed] [Google Scholar]
  15. Serjeantson S. W., Ryan D. P., Thompson A. R. The colonization of the Pacific: the story according to human leukocyte antigens. Am J Hum Genet. 1982 Nov;34(6):904–918. [PMC free article] [PubMed] [Google Scholar]
  16. Serjeantson S. W., White B. S., Jazwinska E. C., Yenchitsomanus P. T., Mickleson K. N., Trent R. J. HLA-DR and -DQ DNA polymorphisms: new linkage relationships established by RFLP genomic typing in Polynesians and Melanesians. Hum Immunol. 1987 Oct;20(2):145–153. doi: 10.1016/0198-8859(87)90028-0. [DOI] [PubMed] [Google Scholar]
  17. Speer A., Dahl H. H., Riess O., Cobet G., Hanke R., Cotton R. G., Coutelle C. Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP. Clin Genet. 1986 Jun;29(6):491–495. [PubMed] [Google Scholar]
  18. Trent R. J., Mickleson K. N., Wilkinson T., Yakas J., Dixon M. W., Hill P. J., Kronenberg H. Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/. Am J Hum Genet. 1986 Sep;39(3):350–360. [PMC free article] [PubMed] [Google Scholar]
  19. Wainscoat J. S., Hill A. V., Boyce A. L., Flint J., Hernandez M., Thein S. L., Old J. M., Lynch J. R., Falusi A. G., Weatherall D. J. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature. 1986 Feb 6;319(6053):491–493. doi: 10.1038/319491a0. [DOI] [PubMed] [Google Scholar]
  20. Woo S. L. Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet. 1988 Nov;43(5):781–783. [PMC free article] [PubMed] [Google Scholar]

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