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In 15 seconds, new test will ID presence of 25 most common mutations of cystic fibrosis

(Philadelphia, PA) -- "Eighty percent of all babies born in the US that have cystic fibrosis (CF) are born to parents with no previous family history." This attention-getting quote, used frequently by an activist in the CF community, makes it powerfully clear what few people realize: that both parents did not know they would pass on to their child the life-altering CFTR gene, the gene mutated in cystic fibrosis. In fact, the Cystic Fibrosis Foundation estimates that more than 10 million Americans are unknowing, asymptomatic carriers of CF, which causes a thickening mucous to surround the lungs and serves as a catalyst for multiple, life-threatening infections throughout a lifetime.

Background

Approximately 30,000 children and adults in the US suffer from CF. In the Caucasian population, where it is most prevalent, one in 30 white Americans carry the mutated gene in their genome but do not manifest the disease. When one carrier with a certain disease allele mates with another who carries the identical disease allele, a process of recombination produces an offspring with the double mutation necessary to cause the disease. One in 3,000 live births has CF today.

CF has more than 1,000 currently known mutations and additional mutations are being discovered regularly. Most of the mutations are "private," running only in families and not outside a specific group. When the mutations exist within the family, many members will have it, the reason why so few common mutations exist.

The American College of Obstetrics and Gynecology (ACOG), American College of Medical Geneticists (ACMG) and National Institutes of Health (NIH) last year recommended that all individuals considering conception be screened for the presence of a mutated CF gene. The group examined all known mutations and identified those most prevalent for each ethnic group, and have recommended screening for the 25 which are most likely to occur (the "ACOG 25"). Each of the 2
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Contact: Donna Krupa
djkrupa1@aol.com
703-527-7357
American Association for Clinical Chemistry
21-Jul-2003


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