The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

doi:10.1590/s1516-31802001000400007

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

Sao Paulo medical journal = Revista paulista de medicina - 5 Jul 2001

Rozenberg R, Pereira L da V

Abstract excerpt

CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several...

Topics

Adolescent
Brazil
Genetic Carrier Screening
Genetic Testing
Humans
Jews
Mutation
Tay-Sachs Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 11500789
DOI: 10.1590/s1516-31802001000400007
PMCID: PMC11164463

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics