Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Clin Genet
; 41(3): 123-8, 1992 Mar.
Article
de En
| MEDLINE
| ID: mdl-1563085
ABSTRACT
A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU. These findings preclude carrier testing and hyperphenylalaninemia typing by genomic analysis at least in the heterogeneous Bulgarian population.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Phénylcétonuries
/
Haplotypes
/
Mutation
Limites:
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Pays/Région comme sujet:
Europa
Langue:
En
Journal:
Clin Genet
Année:
1992
Type de document:
Article
Pays d'affiliation:
Bulgarie