GAUCHER DISEASE - N370S GLUCOCEREBROSIDASE GENE-FREQUENCY IN THE PORTUGUESE POPULATION

Citation
L. Lacerda et al., GAUCHER DISEASE - N370S GLUCOCEREBROSIDASE GENE-FREQUENCY IN THE PORTUGUESE POPULATION, Clinical genetics, 45(6), 1994, pp. 298-300
Citations number
21
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
45
Issue
6
Year of publication
1994
Pages
298 - 300
Database
ISI
SICI code
0009-9163(1994)45:6<298:GD-NGG>2.0.ZU;2-Q
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 de termined in the Portuguese population, which does not present an Ashke nazi Jewish genetic background. A gene frequency of 0.0043, with 95% c onfidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood cards randomly sampled from the national neo natal screening program. On the basis of this frequency a significantl y 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 clinica l phenotype and remain undiagnosed.