Tay-Sachs disease preconception screening in Australia: Self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421+1G>C mutation in individuals with South African heritage

Journal of Community Genetics

Volumn 2, Issue 4, 2011, Pages 201-209

  Lew, Raelia ^a,c   Burnett, Leslie ^a,b   Proos, Anné ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b ROYAL NORTH SHORE HOSPITAL   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Australia; Jewish; Screening; South Africa; Tay Sachs disease

Indexed keywords

ARTICLE; ATTITUDE TO ILLNESS; AUSTRALIA; AUTOSOMAL INHERITANCE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; ETHNIC DIFFERENCE; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE DETECTION; HUMAN; INTERMETHOD COMPARISON; JEW; LAST COMMON ANCESTOR; MOLECULAR PATHOLOGY; PREDICTION; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; SOUTH AFRICA; TAY SACHS DISEASE;

EID: 84856472800     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-011-0057-x     Document Type: Article

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