Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

doi:10.1136/jmg.28.3.177

Back to search

Article

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

Journal of medical genetics - 1 Mar 1991

Landels E C, Ellis I H, Fensom A H, Green P M, Bobrow M

Abstract excerpt

Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish community than in the general population. Over 90...

Topics

Base Sequence
Exons
Gene Frequency
Genetic Testing
Heterozygote
Humans
Introns
Jews
Molecular Sequence Data
Mutation
North America
Polymerase Chain Reaction
Tay-Sachs Disease
United Kingdom
beta-N-Acetylhexosaminidases

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.