Ashkenazi Jewish genetic disorders

@article{Charrow2004AshkenaziJG,
  title={Ashkenazi Jewish genetic disorders},
  author={Joel Charrow},
  journal={Familial Cancer},
  year={2004},
  volume={3},
  pages={201-206}
}
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… 

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References

SHOWING 1-10 OF 11 REFERENCES

Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation

There are clinical differences between Ashkenazi Jewish individuals with idiopathic torsion dystonia who do or do not have a unique DYT1 mutation, as determined by a DyT1‐associated haplotype of 9q34 alleles.

The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease.

The genetics of primary dystonias and related disorders.

  • A. Nemeth
  • Medicine, Psychology
    Brain : a journal of neurology
  • 2002
This review details recent advances in the understanding of the genetic basis of dystonias, including the primary dystonia, the 'dystonia-plus' syndromes and heredodegenerative disorders.

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

A mouse model of Sandhoff disease is treated with the inhibitor N-butyldeoxynojirimycin and the treated mice have delayed symptom onset, reduced storage in the brain and peripheral tissues, and increased life expectancy.

Protection Afforded by Sickle-cell Trait Against Subtertian Malarial Infection

In view of the regional differences in sensitivity found in the earlier experiments one would expect that the units responding, for exampk, to acetone would be found more often in the front part of

Miglustat. Oxford GlycoSciences/Actelion.

  • R. Lachmann
  • Biology
    Current opinion in investigational drugs
  • 2003
Oxford GlycoSciences and Actelion have developed and launched miglustat (OGT-918; Vevesca; Zavesca) for the treatment of type 1 Gaucher disease and additional EU launches were expected over the next few months.

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Gaucher disease. Enzymology, genetics, and treatment.