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Title: Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity

Abstract

Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and had 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. 29 refs., 2 figs., 3 tabs.

Authors:
; ;  [1]
  1. Universidad Autonoma de Madrid, (Spain); and others
Publication Date:
OSTI Identifier:
105241
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 57; Journal Issue: 2; Other Information: PBD: Aug 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; METABOLIC DISEASES; PHENOTYPE; GENOTYPE; GENES; GENE MUTATIONS; GENE RECOMBINATION; ENZYMES; MUTATION FREQUENCY; LATIN AMERICA; SPAIN; GENETICS; PROTEINS; RECESSIVE MUTATIONS

Citation Formats

Desviat, L R, Perez, B, and De Lucca, M. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. United States: N. p., 1995. Web.
Desviat, L R, Perez, B, & De Lucca, M. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. United States.
Desviat, L R, Perez, B, and De Lucca, M. 1995. "Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity". United States.
@article{osti_105241,
title = {Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity},
author = {Desviat, L R and Perez, B and De Lucca, M},
abstractNote = {Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and had 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. 29 refs., 2 figs., 3 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/105241}, journal = {American Journal of Human Genetics},
number = 2,
volume = 57,
place = {United States},
year = {Tue Aug 01 00:00:00 EDT 1995},
month = {Tue Aug 01 00:00:00 EDT 1995}
}