title: The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.
abstract: The mutation N370S accounts for 63% of the mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients. It has been shown previously that this mutation is linked to the Pv1.1- form of the PvuII polymorphism and suggested that the N370S mutation in glucocerebrosidase alleles has an Ashkenazi Jewish origin. We have found that in Portuguese type 1 Gaucher patients this mutation is also invariably associated with the Pv1.1- haplotype, despite the fact that there is no evidence of Ashkenazi Jewish background in this population.
authors.affiliation: Instituto de Genética Médica Jacinto de Magalhaes, 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: J
authors.initials: J
authors.lastname: Aerts
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D004247:DNA / Q000032:analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005784:Gene Amplification; D008040:Genetic Linkage / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007585:Jews; D015345:Oligonucleotide Probes; D011110:Polymorphism, Genetic / Q000235:genetics*; D011174:Portugal
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; D005962:Glucosylceramidase