Copy-neutral LOH is thus called because no net change in the copy number occurs in the affected individual. Possible causes for copy-neutral LOH include acquired uniparental disomy (UPD) and gene conversion.

LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a segment of DNA (typically containing a gene or group of genes).

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In any case, LOH represents the most common genetic mechanism for loss of the normal RB1 allele in patients. If LOH is not found, the most likely explanation is a point mutation inactivation of the second RB1 allele.

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