Tay Sachs Disease

clairegillian95
Mind Map by , created over 5 years ago

First year Genetics & Society (Origin of Phenotype) Mind Map on Tay Sachs Disease, created by clairegillian95 on 04/01/2014.

22
0
0
clairegillian95
Created by clairegillian95 over 5 years ago
Pituitary Dwarfism
clairegillian95
Mitosis & Meiosis
clairegillian95
Genes, Alleles, & The Central Dogma
clairegillian95
Key Definitions for organic chemistry
katburr23
Geography - Case Studies
jacobhatcher97
Autosomal Dominant Traits
clairegillian95
Sickle Cell Anaemia
clairegillian95
Oculocutaneous Albinism
clairegillian95
Dominant Traits
clairegillian95
Tay Sachs Disease
1 6 months
1.1 Asymptomatic
1.2 Irritability
1.3 Impaired startle response
1.4 Infants can't sit up or hold their heads up
1.5 Loss of neck control; lets not straight
1.6 Loss of all motor control, seizures, blindness, deafness, and spasticity
2 Tay Sachs gene encodes hexosaminidase A and is found on chromosome 15
3 Partially degraded gangliosides accumulate in the lysosomes of the nerve cells
4 Lysosomal Storage Disease
5 Autosomal recessive disease
6 Prevalence of Tay Sachs Disease
6.1 1 in 3600 Ashkenazi Jewish births in the US
6.1.1 Carrier frequency of 1 in 30 among Ashkenazi Jews

Media attachments