Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy. Issue 3 (March 1996)

• Record Type: Journal Article
• Authors: Regis, S; Filocamo, M; Stroppiano, M; Corsolini, F; Gatti, R
• Is Part Of: Journal of medical genetics. Volume 33:Issue 3(1996)
• Page Start: 251
• Page End: 252
• Publication Date: 1996-03
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.3.251
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A molecular analysis of the arylsulphatase A gene was performed on 26 unrelated, Italian, late infantile metachromatic leucodystrophy patients. The frequency of the common disease causing mutations 609A and 2381T was 28.8% and 1.9% respectively. Pseudodeficiency allele frequency in patients was found to be 13.5% and a frequency of 10.1% was found in 89 unaffected normal controls. The frequency of the 609A mutation in Italian late infantile patients is lower than in late infantile patients from northern Europe, suggesting a higher frequency of different sporadic mutations in the Italian population. A cooperative in cis effect in phenotype determination involving arylsulphatase A mutations and the eventual background of the pseudodeficiency allele is proposed.