Schetchik energomera se 301 instrukciya. PHENOTYPE MODIFICATION BY THE WILD-TYPE ALLELE VARIANT PRESENT IN TRANS WITH THE MUTANT ALLELE Variation in expression of the ‘normal’ allele opposite to a mutant one can influence the penetrance of a mutant phenotype. The mechanism underlying variable expression at the normal allele is not clear, but regulatory polymorphisms are likely (). A similar situation has also been identified in erythropoietic protoporphyria (EPP) where mutations in the ferrochelatase gene ( FECH) fail to lead to a deficiency phenotype, when the allele in trans carries a single nucleotide variant in intron 3, that strengthens a cryptic splice site, the more frequent utilization of which leads to reduced levels of normally spliced mRNA (). Examples of this include incomplete penetrance at RP11, one of the dominant retinitis pigmentosa loci, where mutations in the ubiquitously expressed splicing factor PRPF31 were shown to cause disease, but only in individuals carrying a high expressing ‘wild-type’ allele ().

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