Ethnicity and Common Mutations

Statisticians and geneticists at institutes around the globe have been able to determine that certain CFTR mutations are more commonly associated with specific races and ethnicities. They have identified 24 mutations, all of which have become part of carrier screening as recommended by the American College of Obstetrics and Gynecologists (ACOG.) Studies have gone so far as to associate the mutations not only with ethnicities, but by geographical region as well.

Below is a list of the 24 common mutations for which carrier testing, prenatal and newborn screening is conducted. These are listed numerically and alphabetically, and not frequency of occurrence.

Not every ethnicity has the same mutations. In North America for example, researchers have identified only twenty-one occurrences of 711+1G- >T in a sample population of greater than 5,000 individual chromosomes. This means that the particular mutation is rather rare for Americans in the United States and Canada.

Interestingly, the DeltaF508 mutation is the most common mutation worldwide. This is why a majority of cystic fibrosis patients have 2 copies of the delta F508 gene—one from each carrier parent.

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For more information and a complete list of the statistics of ethnicity/region and CF mutations, visit http://www.genet.sickkids.on.ca/cftr/resource/rptTable1Full.html