Ashkenazi Jewish genetic disorders

被引：40
作者：
Charrow J. [1 ]
机构：
[1] Department of Pediatrics, Feinberg School of Medicine, NW Univ., No. 59
来源：
Familial Cancer | 2004年 / 3卷 / 3-4期
关键词：
Ashkenazi; Jewish; Jewish disorders; population screening;
D O I：
10.1007/s10689-004-9545-z
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：201 / 206
页数：5
相关论文
共 10 条
  • [1] Harris H., Enzyme polymorphisms in man, Proc R Soc London Ser B Biol Sci, 164, pp. 298-310, (1966)
  • [2] Allison A.C., Protection afforded by sickle cell trait against subtertian malarial infection, BMJ, 1, (1954)
  • [3] Grabowski G.A., Gaucher disease: Enzymology, genetics, and treatment, Advances in Human Genetics, pp. 377-441, (1993)
  • [4] Charrow J., Andersson H., Kaplan P., Et al., Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: Consensus recommendations, J Pediatr, 144, pp. 1-9, (2004)
  • [5] Gravel R.A., Kaback M.M., Proia R.L., Et al., The GM2 gangliosidoses, The Metabolic and Molecular Basis of Inherited Disease, 8th Edition, pp. 3827-3876, (2001)
  • [6] Jeyakumar M., Butters T.D., 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, 96, pp. 6388-6393, (1999)
  • [7] Lachmann R.H., Miglustat. Oxford GlycoSciences/Actelion, Curr Opin Invest Drugs, 4, pp. 472-479, (2003)
  • [8] Nemeth A.H., The genetics of primary dystonias and related disorders, Brain, 125, pp. 695-721, (2002)
  • [9] Bressman S.B., De Leon D., Kramer P.L., Et al., Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation, Ann Neurol, 36, pp. 771-777, (1994)
  • [10] Ekstein J., Katzenstein H., The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease, Adv Genet, 44, pp. 297-310, (2001)
1