To assess birth and gene frequencies of specific autosomal recessively inborn errors of metabolism (IEM) within different ethnic groups.
Design-Retrospective study in a regional centre for investigation and treatment of IEM.
Subjects-All children born within the West Midlands NHS Region, UK, during the decade immediately preceding the 1991 National Census.
Methods-Birth frequencies for individual IEM were calculated separately for the main ethnic groups in the West Midlands using data from the West Midlands Neonatal Screening Programme, the regional register of IEM patients, and population frequencies from the National Census.
Gene frequencies were calculated using previously documented observations on parental consanguinity rates and inbreeding coefficients.
The overall incidence of recorded IEM was tenfold higher among Pakistanis compared to white children (1 : 318 v 1 : 3760), whereas only one AfroCaribbean child was identified (incidence 1 : 16 887).
Tyrosinaemia type 1, cystinosis, mucopolysaccharidosis type 1, non-ketotic hyperglycinaemia, and hyperchylomicronaemia all occurred more frequently among Pakistanis.
An increased gene frequency was only confirmed for tyrosinaemia.
The incidence of phenylketonuria was similar in Pakistani and white children (1 : 14 452 v 1 : 12 611), but the gene frequency was significantly lower in Pakistanis (1 : 713 v 1 : 112). (...)
Mots-clés Pascal : Métabolisme pathologie, Maladie héréditaire, Enfant, Homme, Etats Unis, Amérique du Nord, Amérique, Etude comparative, Ethnie, Fréquence génique, Gène, Consanguinité, Epidémiologie, Conseil génétique, Génétique
Mots-clés Pascal anglais : Metabolic diseases, Genetic disease, Child, Human, United States, North America, America, Comparative study, Ethnic group, Gene frequency, Gene, Consanguinity, Epidemiology, Genetic counseling, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0267671
Code Inist : 002B22D05. Création : 11/09/1998.