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PMID: 6770679 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

American journal of human genetics ·Vol. 32 ·No. 3 ·1980-05-00 ·Pages 387-95

Hu F, Hanifin JM, Prescott GH, Tongue AC

Abstract

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.

MeSH Terms
Adult Aged Albinism/genetics Alleles Dihydroxyphenylalanine/metabolism Female Genotype Hair/ultrastructure Humans Male Melanins/metabolism Melanocytes/enzymology,ultrastructure Monophenol Monooxygenase/genetics Mutation Pedigree Pregnancy Skin/ultrastructure Twins, Monozygotic
Chemicals
Melanins Dihydroxyphenylalanine Monophenol Monooxygenase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Hu F
Hanifin J M
Prescott G H
Tongue A C
References (9)
9 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1980-05-00
Pages
387-95
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1686057
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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