Which ethnic group has the highest CF carrier frequency?

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Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, and the carrier frequency varies significantly among different ethnic groups. In general, studies have shown that individuals of European descent, particularly those with a White background, exhibit the highest carrier frequency for CF mutations, estimated at about 1 in 25. This high carrier rate is linked to the geographical and historical context of the population, where the CFTR gene mutations have been maintained within the gene pool due to a selective advantage against certain infectious diseases in specific environments.

In contrast, other ethnic groups such as Hispanic, African American, and Asian American populations have lower carrier frequencies. For instance, the carrier rates in Hispanic populations are approximately 1 in 46, while for African Americans it is closer to 1 in 65. Asian Americans have an even lower frequency, estimated at about 1 in 90 to 1 in 100. These variations reflect the difference in genetic backgrounds and the historical exposure to environmental pressures that shape the presence of CF-related mutations in these groups.

Understanding these carrier frequencies is crucial for genetic counseling and assessing the risk of CF in prospective parents, particularly in populations where CF is more prevalent.

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