Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.
This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alleles occupying a single locus.
D000328:Adult; D000368:Aged; D000417:Albinism / Q000235:genetics*; D000483:Alleles; D004295:Dihydroxyphenylalanine / Q000378:metabolism; D005260:Female; D005838:Genotype; D006197:Hair / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008543:Melanins / Q000378:metabolism; D008544:Melanocytes / Q000201:enzymology / Q000648:ultrastructure; D014442:Monophenol Monooxygenase / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D012867:Skin / Q000648:ultrastructure; D014430:Twins, Monozygotic
D008543:Melanins; D004295:Dihydroxyphenylalanine; D014442:Monophenol Monooxygenase