DNA-based carrier screening in the Ashkenazi Jewish population.

摘要

Several relatively rare genetic diseases are found at greater frequencies in Ashkenazi Jewish populations. Most of these conditions are untreatable and shorten life expectancy. Genetic screening using molecular detection of a few common mutations for each of these diseases facilitates their prevention by identification of carrier couples. Conversely, couples with negative results are reassured by reduced carrier risks. Using a standardized format, a brief overview for each of the nine genetic diseases is presented. Known mutations, a short clinical summary, clinical and laboratory diagnostic methods and information on supportive treatments is provided for each. Finally, a brief discussion of available DNA testing technologies and a review of platforms for expanded testing options for Ashkenazi Jewish diseases under development are presented.