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

• Type: Article in International Scientific Journal
• Date: 1994

Authors

LACERDA, L (Author) Other; AMARAL, O (Author) Other; PINTO, R (Author) Other; oliveira, p (Author) Other; AERTS, J (Author) Other; MIRANDA, MCS (Author) Other

Journal

Title: Clinical Genetics

Vol. 45

Pages: 298-300

ISSN: 0009-9163

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 19 Citations

Scopus - 17 Citations

Other information

Authenticus ID: P-001-JZR

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3