Document Detail

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
MedLine Citation:
PMID:  7668259     Owner:  NLM     Status:  MEDLINE    
Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and has 43% residual activity, which correlates well with the mild phenotype exhibited by the homozygous patients. In Spain it has been detected in 5.7% of the mutant alleles and is always associated with haplotype 1.7. This mutation is also present in high frequency in some Latin American countries (Brazil, 9%; Chile, 13%). It is interesting that in Chile most of the alleles bearing this mutation carry haplotype 4.3, although in Brazil it is found only on the background of haplotype 1.7. The origin of V388M in Spain on haplotype 1.7 and in Chile on haplotype 4.3 is clearly different. Recurrence is the most plausible explanation, because the mutation involves a CpG dinucleotide, and a recombination event transferring the mutation from haplotype 1 to 4 is unlikely.
L R Desviat; B Pérez; M De Lucca; V Cornejo; B Schmidt; M Ugarte
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  57     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1995 Aug 
Date Detail:
Created Date:  1995-10-12     Completed Date:  1995-10-12     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  337-42     Citation Subset:  IM    
Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
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MeSH Terms
Base Sequence
DNA Mutational Analysis*
Genetic Heterogeneity
Latin America
Minisatellite Repeats
Molecular Sequence Data
Phenylketonurias / genetics*
Polymorphism, Genetic

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