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
Article
in English
| LILACS
| ID: lil-302321
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
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Index:
LILACS (Americas)
Main subject:
Tay-Sachs Disease
/
Jews
/
Genetic Testing
/
Genetic Carrier Screening
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Adolescent
/
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
São Paulo med. j
Journal subject:
Cirurgia Geral
/
Cincia
/
Ginecologia
/
Medicine
/
Medicina Interna
/
Obstetr¡cia
/
Pediatria
/
Sa£de Mental
/
Sa£de P£blica
Year:
2001
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de Säo Paulo/BR
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