1.Discuss how the tautameric shifts, alkylation, oxidation and hydrolysis can in
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Question
1.Discuss how the tautameric shifts, alkylation, oxidation and hydrolysis can influence the spontaneous damage in the DNA.
2. Discuss how the mutation can influence the following diseases:
a. Sickle-cell disease
b. Prostate cancer
c, Thalassemia
d. Hutington's disease
3.What are the possible diagnosis to identify the genetic mutations?
4.As a biomedical engineering, list at least FOUR (4) treatments for the patients with genetic disorders.?
note: short answers and no handwritten for each questions please
Explanation / Answer
1. Tautomeric shift: Tautomers are isomers that are readily interconvertible by relocating proton position within them. The shift from one tautomeric state to another is called tautomeric shift. In case of DNA, the four nitrogenous bases (A, T, G and C) are commonly appeared in keto form. The transition from keto to enol form or imino form of nucleotide bases causes illegitimate base pairing between C to A or G to T, which induce spontaneous DNA damage.
Alkylation:Alkylating agent are the group of electrophilic compound like nitrogen mustard, sulfur mustard, activated halogenated hydrocarbon, which transfer an activated alkyl group to the nucleophilic position of DNA bases. The alkylation of bases at one or two positions results cross-linking within the same DNA strand or with another strand or with the proteins, which prevent the unwinding of DNA strands, thus subsequently inhibits DNA replication, transcription process and causes spontaneous DNA damage.
Oxidation: it refers to the oxidation of specific DNA bases, mainly Guanine as it has the highest oxidation potential, by several reactive oxygen species (hydroxide radicles and superoxide free radicles) generated from cigarette smoke, or automobile exhaust etc. Due to oxidation, guanine is converted to 8-hydroxy-deoxyguanosine that bind thymidine (T) instead of cytosine (C), and cause spontaneous DNA damage.
Hydrolysis: Though spontaneous hydrolysis of phosphodiester linkage is a very slow reaction under normal biological condition, but it may be accelerated in the presence of the transitional metal ions, lanthanide ions and phosphodiesterase, which cause removal of individual bases. Within the four bases, cytosine is most prone to hydrolytic deamination and converted to uracil, which cause DNA base mismatch and promote spontaneous DNA damage.
2. The genetic causes of the following disease
Sickle Cell anemia: This disease appears due to the point mutation at a single DNA base (A to T transition) that convert the 6th amino acid, which is glutamic acid to valine in the haemoglobin beta chain. This mutation cause generation of sickle shaped RBC that leads to Sickle cell anemia.
Prostate cancer: Mutation in HOXB13 genes that results a mutated protein product in which glycine at 84 position is changed to the glutamic acid. This mutation is one of the risk factor associate with prostate cancer.
Thalassemia: ? thalassemia is caused due to the mutation in HBA1 and HBA2 genes. It is also associated with the deletion of 16p chromosome. ? thalassemia is caused due to the mutation on HBB gene on chromosome 11.
Hutington's disease: this disease is caused due to abnormal expansion of CAG repeats in the HTT gene.
3. The possible diagnosis to identify genetic disorder includes monitoring the physical condition through medical examination, analyzing the detailed medical family history and going for the clinical and laboratory testing if available.
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