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Developments in Brief : Cystic Fibrosis Gene May Have Been Found

May 03, 1987|Compiled from Times staff and wire service reports

Researchers may have found the gene responsible for cystic fibrosis, which would be a major step toward understanding the cause of the disease--one of the most common fatal inherited diseases--scientists said last week. The experimental results indicate that even if the discovery is not the long-sought gene, it has brought scientists far closer to that goal, they said.

"We're very excited about it," said Dr. Robert Beall of the Cystic Fibrosis Foundation. Brandon Wainwright, Robert Williamson and others at St. Mary's Hospital Medical School in London reported the work in last week's issue of the British journal Nature.

Researchers want to find the cystic fibrosis gene so they can discover the basic cause of the disease, which afflicts an estimated 30,000 Americans. In all, about 12 million people, or one in 20 adults, carry the defective cystic fibrosis gene and can pass it to their offspring. Only people who inherit the defective gene from each parent get the disease.

Cystic fibrosis victims produce an abnormally thick, sticky mucus that clogs the lungs and digestive system, and respiratory complications kill about 95% of patients before their mid-20s.

Genes are the chemical blueprints for each bodily cell. They are long chemical sequences that lie along tiny strand-like structures called chromosomes. Genes direct the cell's production of proteins, and cystic fibrosis appears to result from a defective gene that results in a defective protein.

Once that gene is found, scientists can identify the defective protein and look for ways to correct that basic defect of the disease, rather than just treating symptoms.

In the new work, the British researchers say they have isolated a gene-like sequence from a chromosome known to carry the cystic fibrosis gene. Wainwright said tests show the newly found sequence is either the cystic fibrosis gene, or it lies much closer to the gene than researchers have gotten before.

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