Abstract
We analyzed mutant genotypes at the human phenylalanine hydroxylase (PAH) locus among phenylketonuria (PKU) patients in the Far East of Russia. A total of 60 variant alleles from 30 PKU families were analyzed for prevalent Caucasian mutations and restriction fragment length polymorphism/variable number of tandem repeats (RFLP/VNTR) haplotypes. Seventy-eight percent of all variant alleles carried six mutations. The most prevalent mutation was R408W (63%), with a haplotype background of 2.3. It also showed a very high degree of homozygosity (43%). The other five mutations (R158Q, R261Q, R252W, R261X, and IVS12nt-1) accounted for 1.7%–6.7% of all PKU alleles, and a single haplotype was associated with each genotype, except for R261Q. The genetic structure of PKU patients in the Far East of Russia seems to be relatively homogeneous, compared with that in the other Slavic and Oriental populations of surrounding countries. Prediction of a clinical phenotype and carrier detection will be feasible using DNA tests.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: June 30, 1999 / Accepted: August 10, 1999
Rights and permissions
About this article
Cite this article
Sueoka, H., Moshinetsky, A., Nagao, M. et al. Mutation screening of phenylketonuria in the Far East of Russia. J Hum Genet 44, 368–371 (1999). https://doi.org/10.1007/s100380050180
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050180
This article is cited by
-
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes
Metabolic Brain Disease (2017)