Skip to main content
Log in

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

  • Short Communications
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

New RFLP patterns are present in Japanese families with members suffering from phenylketonuria indicating a deletion at the 3′ end of the PAH-gene.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Aoki K, Wada Y (1988) Outcome of the patients detected by newborn screening in Japan. Acta Paediatr Jpn 30:429–434

    Google Scholar 

  • Blaskovics M, Schaeffler G, Hack S (1974) Phenylalaninemia. Differential diagnosis. Arch Dis Child 49:835–843

    Google Scholar 

  • 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

    Google Scholar 

  • Chen S-H, Hsiao K-J, Lin L-H, Tang R-B, Su T-S (1989) Study of RFLP's at the human phenyalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese. Hum Genet 81:226–230

    Google Scholar 

  • DiLella AS, Marvit J, Lidsky AS, Güttler F, Woo SLC (1986) Thight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803

    Google Scholar 

  • DiLella AS, Marvit J, Brayton K, Woo SLC (1987) An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333–336

    Google Scholar 

  • 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

    Google Scholar 

  • Lichter-Konecki U, Schlotter M, Yaylak C, Özgüc M, Özlap I, Wendel U, Batzler U, Trefz FK, Konecki DS (1989) DNA haplotype analysis at the phenylalanine hydroxylase locus in he Turkish population. Hum Genet 81:373–376

    Google Scholar 

  • Lidsky AS, Ledley FD, DiLella AG, Kwok SCM, Daiger SP, Robson KHJ, Woo SLC (1985) Extensive restriction site polymorphism at the human phenyalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Gen 37:619–634

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Trefz, F.K., Yoshino, M., Nishiyori, A. et al. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene. Hum Genet 85, 121–122 (1990). https://doi.org/10.1007/BF00276336

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00276336

Keywords

Navigation