Document Detail


Mutation screening of phenylketonuria in the Far East of Russia.
MedLine Citation:
PMID:  10570906     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
H Sueoka; A Moshinetsky; M Nagao; S Chiba
Related Documents :
10471376 - Functional analysis of four cyp21 mutations from spanish patients with congenital adren...
20639616 - Impact of molecular genetics on congenital adrenal hyperplasia management.
15159646 - Discordant pku phenotype in one family due to disparate genotypes and a novel mutation.
8068076 - Identification of a new missense mutation in japanese phenylketonuric patients.
23254636 - C9orf72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-...
21889436 - Genetic and environmental influences on impulsivity: a meta-analysis of twin, family an...
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    
Affiliation:
Department of Pediatrics, National Otaru Hospital, Hokkaido, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Genetic Testing*
Humans
Infant
Mutation
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / genetics*
Russia
Chemical
Reg. No./Substance:
EC 1.14.16.1/Phenylalanine Hydroxylase

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


Previous Document:  A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
Next Document:  Mapping of a gene responsible for dermatitis in NOA (Naruto Research Institute Otsuka Atrichia) mice...