Document Detail

Mutation screening of phenylketonuria in the Far East of Russia.
MedLine Citation:
PMID:  10570906     Owner:  NLM     Status:  MEDLINE    
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.
H Sueoka; A Moshinetsky; M Nagao; S Chiba
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of human genetics     Volume:  44     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  1999  
Date Detail:
Created Date:  2000-01-27     Completed Date:  2000-01-27     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  368-71     Citation Subset:  IM    
Department of Pediatrics, National Otaru Hospital, Hokkaido, Japan.
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MeSH Terms
Child, Preschool
Genetic Testing*
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / genetics*
Reg. No./Substance:
EC Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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