title: Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
abstract: In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles. The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background. A gene frequency of 0.0043, with 95% confidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood cards randomly sampled from the national neonatal screening program. On the basis of this frequency a significantly high number of homozygotes for the N370S mutation should be expected in the Portuguese population. This finding supports the idea that the majority of homozygotes for this mutation present a very mild clinical phenotype and remain undiagnosed.
authors.affiliation: Unidade de Enzimologia, Instituto de Genética Médica Jacinto Magalhães, Porto, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Lacerda
authors.forename: O
authors.initials: O
authors.lastname: Amaral
authors.forename: R
authors.initials: R
authors.lastname: Pinto
authors.forename: P
authors.initials: P
authors.lastname: Oliveira
authors.forename: J
authors.initials: J
authors.lastname: Aerts
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D016009:Chi-Square Distribution; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007585:Jews / Q000235:genetics; D017720:Molecular Epidemiology; D017354:Point Mutation; D011174:Portugal / Q000453:epidemiology
chemical_list: D005962:Glucosylceramidase