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The human eye disease retinitis pigmentosa is caused by a loss of function mutation (rp) in the gene PRPF31. The disease is e
The human eye disease retinitis pigmentosa is caused by a loss of function mutation (rp) in the gene PRPF31. The disease is e
The human eye disease retinitis pigmentosa is caused by a loss of function mutation (rp) in the gene PRPF31. The disease is e
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The human eye disease, retinitis pigmentosa is caused by loss of function mutation (rp) in the gene PRPF31. The disease is expressed when combined with wild type allele 1 (rp+1) in a heterozygote, but not expressed when combined with wild type allele 2 (rp+2) in a heterozygote. When comparing the number PRPF31 mRNA transcripts in the eyes of rp/rp+1 and rp/rp+2 individuals researchers have found higher number of PRPF31 mRNA in the eyes of rp/rp+2 individuals.

This is an example of incomplete penetrance due to haploinsufficiency when is rp occurs in the same genotype as rp+2,

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