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1: J Inherit Metab Dis. 2004;27(1):109-10.Click here to read Links

Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation.

Rozenberg R, Martins AM, Micheletti C, Mustacchi Z, Pereira LV.

Centro de Estudos do Genoma Humano, Depto de Genética, Instituto de Biociências, Universidade de São Paulo, Brazil.

Seven Brazilian Tay-Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation. Three patients were homozygotes, three were compound heterozygotes, and in one case only the mother was tested and shown to carry the IVS7+1g>c mutation. In the second allele the compound heterozygotes presented: R178H (the DN allele), InsTATC1278 and an unidentified mutation. The IVS7+1g>c mutation has already been described in three Portuguese patients. In this study, all families were unaware of any Portuguese ancestry. Since Brazil was a Portuguese colony, the mutation most probably came from ancient common ancestry. The initial molecular analysis of Tay-Sachs disease patients in Brazil indicated a prevalence of the IVS7+1g>c mutation, possibly as a result of genetic drift.

PMID: 15065574 [PubMed - indexed for MEDLINE]