Ashkenazi Jews

It is also important to understand the source and significance of genetic variations. The Pima Indians have the highest rates of diabetes in the world Tay-Sachs disease is primarily found in Ashkenazi Jews. Contemporary literature indicates that these differences stem from reproductive isolation, not race. Genetic traits common to persons with sickle-cell disease are related to malaria frequency and not our social view of race. This is why the disease can be found in high frequency in Yemen, West Africa, Greece, and Saudi Arabia. 

Racial and ethnic groups may also vary in the extent to which they are carriers of autosomal recessive or dominant diseases that could be inherited by offspring. African Americans will be subject to many of the same diseases as whites, for example, cystic fibrosis, but the incidence of the disease may vary. In some cases, however, the incidence of disease may be higher among African Americans, just as it is for some white subgroups, for example, the higher incidence of Tay-Sachs disease and BRCA1 and -2 mutations in Ashkenazi Jews. 

Nestorowicz, A., Wilson, B.A., Schoor, K. P., Inoue, H., Glaser, B., Landau, H., Stanley, C.A., Thornton, P.S., Clement, J. P., Bryan, J., Aguilar-Bryan, L. and Permutt, M.A. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Human Molecular Genetics, 5, 1813-1822. 

Struewing, j. P., et al.. The risk of cancer associated with specific mutations of BRCAl and BRCA2 among Ashkenazi Jews. N Engl J Med,... 

This autosomal recessive disease occurs in Ashkenazi Jews, the Pennsylvania Amish, and several other populations with an incidence of 1 in 3600,100 times higher than the overall population the carrier frequency in these populations is about 3%. 

Caucasian. In the United States, most testing clients are, like the majority of the population, Caucasian non-Jews. This is important for the testing laboratory to know because the Bayesian for carrying a common disease allele, such as that causing cystic fibrosis, differs from that of Ashkenazi Jews, Asians, or African Americans. In addition, Caucasian non-Jews of Northern European descent are more prone to different genetic diseases, such as hemochromatosis, than are individuals of other ethnicities. 

Non-Jewish. Because Ashkenazi Jews tend to partner with others from their ethnic group, the mutation spectrum for common hereditary disease is often confined within that population. Mating tendencies cause certain alleles to become more prevalent within the inbred population than in the country as a whole. Therefore, mutation coverage and risk-reduction statistics are specific for a particular ethnicity. As a consequence, an Ashkenazi Jewish individual with a negative CF test by DNA and no family history has a significantly diminished risk of being a carrier (1/801) compared with a Caucasian non-Jew (1/241) with the same assay result. 

Ashkenazi Jewish (both parents CJA). Ashkenazi Jews, who are defined as those bom of Jews of European origin where both parents were Ashkenazi, have hereditary disease risk characteristics different from those of other groups. Because there has been little outbreeding in the group for at least several hundred years, this group is an effective bottleneck for several characteristic genetic lesions. 

This is a common, clinically asymptomatic genetic trait in Ashkenazi Jews. 

Cystic fibrosis (Northern Europeans, Ashkenazi Jews optional for African Americans and Asians)... 

Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA. Recombinant mapping of the familial hyperinsulinism gene to an 0.8CM region on chromosome llpl5.1 and demonstration of a founder effect in Ashkenazi Jews. Hum Mol Genet 1995 4(5) 879-886. 

Should members of high-risk ethnic groups be screened selectively—for example, Ashkenazi Jews for Tay-Sachs disease, Af-... 

Haemophilia A and B are X-hnked recessive disorders. Haemophiha C is a much more rare autosomal recessive disorder, most commonly seen in Ashkenazi Jews (Ashkenazi Jews are those that are descended from the medieval Jewish communities of the Rhineland in the west of Germany). 

For disorders characterized by an underlying enzyme deficiency (e.g., Gaucher disease, Fabry disease, Tay-Sachs, Hurler syndrome), assays of enzyme activity in blood and/or tissues is generally available (Meikle et al., 2004). Mutation analysis is also available, particularly for populations in whom the common disease alleles are known (e.g., mutations among Ashkenazi Jews for Gaucher, Tay-Sachs, Niemann-Pick type A, and mucolipidosis type IV Ostrer, 2001). In other cases, analysis of the gene defect responsible for rare subtypes is available through specialized laboratories. 

Tay-Sachs disease is the B-variant of GM2 gangliosidosis due to a-chain deficiency and to the subsequent deficiency of hexosaminidases A and S, buf wifh normal hexosaminidase B. Depending on fhe residual enz)me acfivify of /3-hexosaminidase, fhe onsef of symptoms may occur an)Twhere from late infancy to adulthood and are usually subclassifled into infantile (t) e 1)-, juvenile (type 2)-, chronic-, and adult-onset forms [33]. In type 1, the most common disease with a carrier frequency of 1 in 27 among Ashkenazi Jews [154], patients are normal at birth but then show s)mptoms, such as mild motor weakness, between 3 and 6 months, resulting in hypotonia, poor head control, decreasing attentiveness, and visual symptoms (cherry red... 

The incidence rate of Type-I diabetes may also vary considerably over a narrow geographic range. In Israel, the Ashkenazi Jews are affected with 6.8 new cases of Type-I diabetes per 100000 per year while Arabs in Israel suffer only in 1.2/100 000, pointing to an effect of different genetic background. 

These tests use either heat or isopropanol to precipitate the unstable Hb and must be performed on fresh blood. There are more than 100 unstable Hbs resulting mainly from the interchange of nonpolar amino acid residues for polar amino acid residues in positions in either the a- or P-globin chain associated with the heme cleft. Hb Hasharon (a47(CD) P ), an Hb variant found in Ashkenazi Jews,... 

Levy-Lahad E, Catane R> Eisenberg S, Kaufman B, Hornreich G, Lishinsky E, et al. Founder BRCAl and BRCA2 mutations in Ashkenazi Jews in Isreal frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet 1997 60 1059-67. 

In the past, clozapine agranulocytosis was associated with HLA variants in Ashkenazi Jews [79],... 

Plasma thromboplastin antecedent (PTA) XI Factor XI deficiency Rare, primarily in Ashkenazi Jews 4 0.025 Liver 40-80 FA11 HUMAN... 

The frequency of Tay-Sachs carriers among Ashkenazi Jews is 1/30. The frequency of Tay-Sachs carriers among whites of Western European descent is approximately 1/300. If a mother is an Ashkenazi jew and a father is a white from Western Europe, what is the chance that a child of this union will have Tay-Sachs disease ... 

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