Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1977 Mar;29(2):164-8.

Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay

R A King, C J Witkop

Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay

R A King et al. Am J Hum Genet. 1977 Mar.

Abstract

Five heterozygotes for ty-neg OCA had absent or markedly reduced hairbulb tyrosinase activity, when compared to normally pigmented control subjects. Clinically, all five were fully pigmented and could not be distinguished from the normal control subjects. It is proposed that the quantitative hairbulb tyrosinase assay can be used to detect heterozygotes for ty-neg OCA. A mechanism to explain the low levels of activity in the hairbulbs from heterozygotes is discussed.

PubMed Disclaimer

References

    1. J Biochem. 1961 Jun;49:700-6 - PubMed
    1. Ann Hum Genet. 1960 Jul;24:213-38 - PubMed
    1. Ann N Y Acad Sci. 1963 Feb 15;100:497-533 - PubMed
    1. Physiol Zool. 1951 Jan;24(1):1-8 - PubMed
    1. Physiol Rev. 1950 Jan;30(1):91-126 - PubMed

Publication types

Substances

LinkOut - more resources