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Genetic Linkage

Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete

Pseudomonas aeruginosa, a bacterium that inhabits the lungs of many people who have cystic fibrosis, but is otherwise rare.
A hypothetical heterosexual couple living in the US or UK takes tests to learn if they are carriers of the more prevalent recessive diseases. They’re relieved to find out that cystic fibrosis (CF) isn’t something they need worry about passing to their children – neither has any of the few dozen mutations the test panel includes.

The couple do not carry the most common 32, 106, or even 139 disease-causing mutations in the CFTR gene, the number depending upon the testing lab. But that could be a problem – a false negative – if the woman and man are anything other than non-Hispanic whites.

More than 2,000 variants (alleles) of CFTR are known, and their prevalence varies in different populations. That’s not because DNA recognizes the race or nationality of the person whose cells it’s in, but because of how we choose our partners. Read More 
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