Saturday, 22 January 2011

genetics - What is the difference between copy number changes with and without allelic imbalance?

I require some clarification on copy number aberrations (structural gain and loss in chromosomes). From what I understand, gain/loss per se can be divided into two types.



Consider two alleles, A and B at the same locus on homologous chromosomes.



  1. Allelic Balance: in one type of structural gain/loss, there is no resulting allelic imbalance; examples:



    • AB ==> AABB (duplication),

    • AB => -- (loss).


  2. Allelic Imbalance: in the other type of structural gain/loss, there is resulting allelic imbalance; examples:



    • AB ==> AAB (duplication of A),

    • AB => -B (deletion LOH),

    • AB ==> BB (copy-neutral LOH).


First, is what I have described above correct?



Second, if it is correct, what is the biology underpinning these copy number aberration types? Are the mechanisms responsible for bringing about allelically-imbalanced CN change distinct from the mechanisms for bringing about allelically-balanced CN change? What are these mechanisms?



NB. I'm confining this to just copy number-related allelic imbalance.

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