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Patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. Patients with tay-sachs have a "cherry-red" spot in the back of their eyes (the retina). Pathogenesis the condition is caused by insufficient activity of an enzyme called hexosaminidase a that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of tay-sachs disease can be identified by a simple blood test that measures hexosaminidase a activity. Both parents must be carriers in order to have an affected child. nationalityinworldhistory.net/bsh-buy-viagra-online-no-prescription-xr/ Prenatal monitoring of pregnancies is available if desired. To expand on the genetic basis, tay-sachs is an autosomal recessive genetic condition: if both parents are carriers, there is a 25% risk with each pregnancy for an affected child. no prescription viagra pharmacies The disease results from mutations on chromosome 15 in the hexa gene encoding the alpha-subunit of the lysosomal enzyme beta-n-acetylhexosaminidase a. cheap viagra online This enzyme is necessary for breaking down n-galactosamine from gm2 gangliosides in brain and nerve cells. viagra without prescription More than ninety mutations have been identified in the hexa gene. viagra online without prescription These consist of base pair insertions, base pair deletions, splice site mutations, and point mutations. All of these mutations alter the protein product. For example, a four base pair insertion in exon 11 results in an altered reading frame for the hexa gene while a three base pair deletion eliminates the amino acid phenylalanine from the protein product at position 304. natural herbs like viagra A g to c point mutation at amino acid one hundred eighty changes the codon uac to uag causing termination of the polypeptide. viagra online aus deutschland A g to a point mutation at amino acid 170 changes the codon cga to caa and cgg to cag which produces glutamine instead of arginine. buy viagra online eu A g to c mutation in the splice site of intron 12 has also been identified. buy viagra This mutation creates a recognition site for the restriction enzyme ddel resulting in abnormal splicing and the production of aberrant mrna species. Read more at wikipedia. Org • [list your site here free! ] tay-sachs disease tay-sachs disease is a genetic disorder. viagra gold usa A missing enzyme results in the accumulation of a. viagra 100 directions Satellite and Wireless Internet Service Provider for connecting your location to Broadband Internet.

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