Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

Hum Mol Genet. 1994 Nov;3(11):2047-51.

Abstract

Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African-American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African-American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African-American patients with OCA2.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Albinism, Oculocutaneous / ethnology
  • Albinism, Oculocutaneous / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Black People / genetics
  • Black or African American
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Monophenol Monooxygenase / genetics*
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • Monophenol Monooxygenase