22075144
| Question | Answer |
| ATM kinase activity can be measure by... | Has to be induced by DNA damage (protein level is not induced, just activity) Commonly use ionizing radiation or a radiomimetic drug to activate Immunoprecipitate the ATM protein using an ATM Ab and use it to phosphorylate a protein target (p53) in vitro OR Use phosphospecific antibodies to detect the phosphorylated target |
| Haploinsufficiency | For most gene products half the amount of protein (and it may be a lot less) is sufficient for normal function. For some gene products, however, 50% of the normal level is not enough for normal function and haploinsufficiency produces an abnormal phenotype. |
| Dominant negative effects | A non-functional mutant polypeptide can interfere with a normal protein from the normal allele giving a dominant negative effect. |
| Locus heterogeneity | Same disease can be caused by mutation in a different gene. Proteins interact with other proteins, form complexes or are part of a biochemical pathway. Eg ataxia telangiectasia can be caused by mutation in the ATM gene but also in the hMRE11 gene |
| What does the Western Blot tell us? | Whether there is any protein present and how much. This gives a clue about the type of mutations present. If there is protein the Western gives no information about whether it is still functional |
| Analysis in patients with no ATM protein. | No protein - then two truncating mutations Protein present - then either missense mutation (may result in ‘normal’ level of protein) (leaky splice site mutation, In frame exon deletion) |
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