Abstract
The frequency of several genes responsible for "single-gene" disorders and disease predispositions is higher among Ashkenazi Jews than among Sephardi Jews and non-Jews. The disparity is most likely the result of founder effect and genetic drift, rather than heterozygote advantage. The more common Mendelian Ashkenazi Jewish genetic disorders are summarized, and examples of variable expressivity and penetrance, inconsistent genotype–phenotype correlation, and potential modifiers are presented. The importance of genetic counseling in both the pre- and post-test phases of population screening is emphasized.
Similar content being viewed by others
References
Harris H.Enzyme polymorphisms in man.Proc R Soc London Ser B Biol Sci 1966;164:298-310.
Allison AC.Protection afforded by sickle cell trait against subtertian malarial infection.BMJ 1954;i:290.
Grabowski GA.Gaucher disease:enzymology,genetics,and treatment.In Harris H, Hirschhorn K (eds):Advances in Human Genetics.New York: Plenum Press 1993;377-441.
Charrow J, Andersson H, Kaplan P et al.Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.J Pediatr 2004;144:1-9.
Gravel RA, Kaback MM, Proia RL et al.The GM2 gangliosidoses.In Scriver CR, Beaudet AL, Sly WS, Valle D (eds):The Metabolic and Molecular Basis of Inherited Disease,8th edition. New York: McGraw-Hill 2001;3827-76.
Jeyakumar M, Butters TD, Cortina-Borja M et al.Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.Proc Natl Acad Sci USA 1999;96:6388-93.
Lachmann RH. Miglustat.Oxford GlycoSciences/Actelion.Curr Opin Invest Drugs 2003;4:472-9.
Nemeth AH. The genetics of primary dystonias and related disorders.Brain 2002;125:695-721.
Bressman SB, de Leon D, Kramer PL et al.Dystonia in Ashkenazi Jews:clinical characterization of a founder mutation.Ann Neurol 1994;36:771-7.
Ekstein J, Katzenstein H.The Dor Yeshorim story:community-based carrier screening for Tay-Sachs disease.Adv Genet 2001;44: 297-310.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Charrow, J. Ashkenazi Jewish genetic disorders. Familial Cancer 3, 201–206 (2004). https://doi.org/10.1007/s10689-004-9545-z
Issue Date:
DOI: https://doi.org/10.1007/s10689-004-9545-z