title: DNA-based carrier screening in the Ashkenazi Jewish population.
abstract: 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.
authors.affiliation: Specialty Laboratories, Inc., 2211 Michigan Avenue, Santa Monica, CA, USA. bzhang@specialtylabs.com
authors.forename: Bailing
authors.initials: B
authors.lastname: Zhang
authors.forename: Linda
authors.initials: L
authors.lastname: Dearing
authors.forename: Jean
authors.initials: J
authors.lastname: Amos
mesh_terms: D004252:DNA Mutational Analysis; D005061:Europe, Eastern; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics / Q000517:prevention & control; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D012307:Risk Factors