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704864
Tay Sachs Disease
Description
First year Genetics & Society (Origin of Phenotype) Mind Map on Tay Sachs Disease, created by clairegillian95 on 01/04/2014.
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genetics & society
origin of phenotype
genetics & society
origin of phenotype
first year
Mind Map by
clairegillian95
, updated more than 1 year ago
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Created by
clairegillian95
over 10 years ago
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Resource summary
Tay Sachs Disease
6 months
Asymptomatic
Irritability
Impaired startle response
Infants can't sit up or hold their heads up
Loss of neck control; lets not straight
Loss of all motor control, seizures, blindness, deafness, and spasticity
Tay Sachs gene encodes hexosaminidase A and is found on chromosome 15
Partially degraded gangliosides accumulate in the lysosomes of the nerve cells
Lysosomal Storage Disease
Autosomal recessive disease
Prevalence of Tay Sachs Disease
1 in 3600 Ashkenazi Jewish births in the US
Carrier frequency of 1 in 30 among Ashkenazi Jews
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