Which population is particularly noted for having higher prevalence of CF mutations?

Prepare for the AAB Molecular Diagnostics Test with focused study materials and practice questions. Gain insights into questions, formats, and key topics to excel in your exam and advance your career in molecular diagnostics.

The population of Ashkenazi Jews is particularly noted for having a higher prevalence of cystic fibrosis (CF) mutations. This is primarily attributed to a higher carrier rate of the CFTR gene mutations within this population, specifically the ΔF508 mutation, which is the most common mutation associated with CF. Genetic studies have shown that Ashkenazi Jews have a carrier frequency of approximately 1 in 25, which is significantly higher than many other populations.

In addition to the higher carrier frequency, the founder effect plays a significant role, as a small number of ancestors contributed to the current genetic makeup of Ashkenazi Jews, leading to an increased prevalence of certain genetic conditions, including CF.

In contrast, other populations such as Hispanics, Asians, and African Americans generally display lower carrier rates for cystic fibrosis. While cystic fibrosis can occur in any ethnic group, the overall prevalence and associated mutations are less common among these groups compared to Ashkenazi Jews. Therefore, it is established in genetic research and epidemiological studies that the mutations contributing to cystic fibrosis are significantly more prevalent within the Ashkenazi Jewish population.

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