Difference Between Allelic-Imbalance Copy Number Change And Allelic-Balance Copy Number Change
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9.5 years ago
user1202664 ▴ 200

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

  • Allelic Balance: in one type of structural gain/loss, there is no resulting allelic imbalance; examples: AB ==> AABB (duplication), AB => -- (loss).

  • 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.

copynumber • 3.9k views
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9.5 years ago

In my experience, it is unusual to have a copy number change that does not result in an allelic imbalance. The alternative, copy-number-neutral allelic imbalance is not that unusual, though.

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Less common than allelic-imbalance events, yes. But is that because there is a different mechanism at play, or is it just due to the lower probability of having two copy-number aberrations of the same type at the same locus on homologous chromosomes?

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