SCIENCE / MEDICINE : Genetic Defect Found for Albino Condition

Scientists have discovered a specific genetic defect that causes the pale skin and white hair of people who are albinos. The discovery, reported last week in the New England Journal of Medicine, should help doctors tell parents before birth whether their babies are likely to have this inherited condition.

Geneticist Richard A. Spritz and his colleagues at the University of Wisconsin studied a family in which four sisters were albinos, but their parents and brothers had normal skin color. They found that the sisters inherited two different genetic mutations, one from each parent. The defects were in a gene that makes a protein called tyrosinase. Tyrosinase is needed to make melanin, the pigment that gives color to the skin, hair and eyes.

About one in every 17,000 people in the United States is albino.