Interested to Buy Any Domain ? << Click Here >> for more details...
what are the reasons for gaucher's disease?
- 1 Answers
- 4078 Views
- I also Faced
- E-Mail Answers
Answer / swapna
Gaucher disease is a glycolytic storage disease caused by a
deficiency in activity of the catabolic enzyme
glucocerebrosidase. Over 35 different mutations have been
documented, including missense and nonsense point
mutations, splicing mutations, deletions and insertions, a
fusion gene, and examples of gene conversion. Gaucher
disease is most common in the Ashkenazi Jewish population,
in which just five of the mutations in this population
account for 98% of the disease-producing alleles. Each of
these mutations is found in the context of a single
haplotype, a finding consistent with a single origin of
each mutation. Although it is clear that these mutations
provide a selective advantage in the Jewish population and
thus constitute a balanced polymorphism, the nature of the
advantage is unknown. Gaucher disease can be treated
symptomatically, by administration of the missing enzyme,
by allogeneic bone marrow transplantation, and potentially
by gene transfer into hematopoietic stem cells. Increasing
understanding of this disease has, as in other genetic
disorders, created a host of social and ethical dilemmas
regarding matters such as the cost of treatment for rare
diseases and the advantages and disadvantages of population-
targeted genetic screening.
| Is This Answer Correct ? | 1 Yes | 0 No |
If you isolate mitochondria and place them in buffer with a low pH they begin to manufacture ATP. Why?
what is siderophilin?
how vitamin c is synthesised?
In 3d-series, which two elements exhibit an anomalous configuration?
which solvent mixture is normally used in paper chromatography?
What is the rule for the pairing of nitrogen-containing bases in the dna molecule and in the rna? Is this last question appropriate?
What is the bond angle of phosphorous?
Explain entropy?
How does the UV absorption of specific amino acids aid biochemists?
Which is better msc biotechnology from jawahar lal nehru university of msc bio chemistery from delhi university?
What factors cause the hydrolysis of ATP so exergonic?
Do all proteins have quaternary structure?
Micro Biology 
