The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
São Paulo med. j
; 119(4): 146-149, July 2001. tab
Artigo
em Inglês
| LILACS
| ID: lil-302321
Biblioteca responsável:
BR1.1
RESUMO
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 percent in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE:
To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community.SETTING:
Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de Säo Paulo.PARTICIPANTS:
581 senior students from selected Jewish high schools. PROCEDURE Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion.RESULTS:
Among 581 students that attended educational classes, 404 (70 percent) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65 percent were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample.CONCLUSION:
The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Doença de Tay-Sachs
/
Judeus
/
Testes Genéticos
/
Triagem de Portadores Genéticos
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Adolescente
/
Humanos
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
São Paulo med. j
Assunto da revista:
Cirurgia Geral
/
Cincia
/
Ginecologia
/
Medicina
/
Medicina Interna
/
Obstetr¡cia
/
Pediatria
/
Sa£de Mental
/
Sa£de P£blica
Ano de publicação:
2001
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade de Säo Paulo/BR