Roanoke Times
                 Copyright (c) 1995, Landmark Communications, Inc.

DATE: SUNDAY, October 1, 1995                   TAG: 9510020113
SECTION: NATIONAL/INTERNATIONAL                    PAGE: A-10   EDITION: NEW RIVER VALLEY 
SOURCE: Associated Press
DATELINE: MINNEAPOLIS                                LENGTH: Medium

SCIENTISTS NEAR FINDING ALBINO GENE

Finding the gene will help researchers investigate how it functions and allow them to consider ways to treat Hermansky-Pudlak syndrome, said Dr. Richard King, the lead researcher in the University of Minnesota study.

``This is an important first step in isolating the gene for this disease,'' said King, a professor of medicine and pediatrics, and associate director for clinical research of the university's Institute of Human Genetics.

Hermansky-Pudlak syndrome affects one in 2,000 Puerto Ricans. It can cause excessive bleeding, abnormal growths in the lungs and chronic bowel disease, in addition to the characteristic pigmentation deficiencies suffered by albinos.

``Many of those afflicted die or are incapacitated from lung disease,'' King said. ``Presently we don't know why or how these complications develop.''

King said his research will also provide insights into the genetic aspects of common types of lung fibrosis and inflammatory bowel diseases.

The researchers published their findings in the October issue of the American Journal of Human Genetics.

Dr. Murray Brilliant, a member of the Institute for Cancer Research at the Fox Chase Cancer Center in Philadelphia, praised King's work. He stressed the discovery's importance for those most at risk from Hermansky-Pudlak syndrome, including Puerto Ricans on the U.S. mainland.

``HPS is really a terrible genetic disease,'' Brilliant said. ``I think the localization of a gene for HPS is extremely significant, and it will undoubtedly lead to the identification of the gene that causes HPS.''

The scientists determined that the gene for the syndrome is located on chromosome 10 of the 46 human chromosomes, but more research is needed to further pinpoint its location, King said.

About 4,000 to 5,000 genes are on chromosome 10 alone, he said, and the 46 chromosomes together contain about 100,000 genes.

The researchers used genetic mapping techniques on blood samples provided by 141 people from 36 families in six northwestern Puerto Rican towns. They included 57 people with the disease and 82 unaffected family members.