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Testing for genetic mutations within ethnic groups

August 17, 2009|Shari Roan

Sean Delshad, 19, probably could have found more enjoyable things to do on a breezy Sunday afternoon. But instead he was waiting his turn at Sinai Temple -- along with dozens of other members of Los Angeles' large Persian Jewish community -- to undergo genetic testing.

The UCLA student deposited a few drops of saliva in a tube handed to him by a doctor and, in four to six weeks, he'll learn whether he carries gene mutations for four disorders that are especially prevalent among Persian Jews. Three are easy to treat -- provided a person knows he or she is afflicted. The fourth is incurable.


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The screening program, conducted by the Cedars-Sinai Medical Genetics Institute, is a unique attempt to make broad-scale genetic testing more efficient by targeting ethnicity, a concept called ethnogenetics. Organizers hope to test at least 10,000 of the 30,000 Persian Jews in Southern California.

"The bottom line is, it's good to know. You can see what steps you need to take to be better prepared," Delshad said.

The program grew out of the institute because its director, Dr. David L. Rimoin, was one of the pioneers of genetic screening for Tay-Sachs disease in the Ashkenazi Jewish population more than 40 years ago.

Since that time, the mapping of the human genome has revealed many gene mutations that appear more frequently in certain ethnic groups. Recent discoveries on several mutations found in Persian Jews, plus their large numbers in Los Angeles, made this group a prime target for the launch of the program.

Every ethnic and racial group has five to 10 gene mutations that increase the risk for specific conditions, Rimoin says. Such traits are more easily identifiable -- because they're more common -- in groups with a strong tradition of intermarriage.

For Persian Jews, this tradition began in 586 BC, during an era of captivity in Babylon, which is now Iran. For centuries, Persian Jews were isolated from other Jewish and non-Jewish communities by geography and reproductive practices. In the late 1970s, many migrated to the United States.

But, Rimoin says, "no one group has more mutations than another."

As scientists continue to find genes linked to specific diseases, and as treatments emerge, doctors hope more institutions and medical centers will offer screenings.

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