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Experts Say Widespread Use is Creating Unnecessary Risks

Brian Vastag

JAMA. 2003;289:2923-2924.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Introductory genetics courses often present recessive inheritance as a simple "truth": if both parents carry one copy of a theoretical recessive gene for blue eyes, each child has a 25% chance of being born with azure orbs.

The gene responsible for cystic fibrosis encodes a protein called cystic fibrosis transmembrane conductance regulator (CFTR), and hundreds of different variations of this gene can result in a defective CFTR protein. The most common of these mutations, called F508, is carried by about 1 in 30 whites in the United States. In this mutation, three nucleotides are deleted from the gene, knocking out a phenylalanine amino acid.

If only it were that simple for cystic fibrosis.

In the 2 years since the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommended widespread genetic testing to determine if prospective parents carried mutations associated with the . . . [Full Text of this Article]

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