Diseases Tay-Sachs’ disease

Among its many other applications, DNA fingerprinting is widely used for the diagnosis of genetic disorders. Cystic fibrosis, hemophilia, Huntington s disease, Tay-Sachs disease, and sickle-cell anemia are among the many diseases that can be detected, enabling early treatment of an affected child. In addition, the U.S. Department of Defense now requires blood and saliva samples from all military personnel. The samples are stored, and DNA is extracted should the need for identification of a casualty arise. 

Fabry disease Von Willebrand disease Tay-Sachs disease... 

Cystine storage disease Gaucher s disease Glycogen stora ge disease Juvenile, Tay-Sachs disease Niemann-Pick disease Tay-Sachs disease Chronic renal failure Hemolytic-uremic syndrome Nephrotic syndrome Benign recurrent intrahepatic cholestasis... 

Tay-Sachs disease is caused by the mutation of the alpha subunit of hexosaminidase A gene (HEXA). Deficitated hexosaminidases A and B produce 3 distinct clinical forms of ganglioside GM2 storage disease-Tay-Sachs disease, Sandhoff disease, and juvenile GM2-gangliosidosis. Hexosaminidase-A has a structure comprised of alpha-beta subunits and Tay-Sachs disease is the alpha-minus mutation, whereas Sandhoff disease is a beta-minus mutation (Beutler and Kuhl, 1975 Beutler et al., 1975). Subunit alpha is mapped to chromosome 15 (and beta to chromosome 5). Different levels of residual activities are correlated with the age of clinical onset Tay-Sachs disease, 0.1% of normal hexosaminidase late infantile,... 

Tauri disease Tay-Sachs disease Testicular feminization syndrome Tetrahydrobiopterin deficiency Thiopurine methyltransferase deficiency Thymidine phosphorylase deficiency Transcobalamin II deficiency Tricho-hepato-enteric syndrome Trimethylaminuria Tripeptidyl peptidase I deficiency Tryptophan-2,3-dioxygenase deficiency Tryptophanuria... 

A group of inherited diseases in which there are deficiencies of specific lysosomal hydrolases. The diseases are characterized by the deposition of complex lipids. They include Gaucher s disease, Fabry s disease, Krabbe s disease, Tay-Sachs disease, generalized gangliosidosis, Niemann-Pick disease and metachromatic leukodystrophy. 

Tay-Sachs disease Tay-Sachs disease is the result of a defective hexosaminidase A, which causes an accumulation of gangliosides and leads to mental retardation, loss of motor control, and early death. 

Taylor system Tay-Sachs disease Tazettine [507-79-9] Tazicef Tazidime... 

GM2 gangliosidosis (also known as Tay-Sachs disease) is a rare disorder caused by mutations in the gene encoding the lysosomal, heterodimeric ss-hexosaminidase... 

Tay-Sachs disease Hexosaminidase A Cer—Gic—Gal(NeuAc)-i-GalNAc GM2Gangiioside Mental retardation, blindness, muscular weakness. 

Sandhoff s disease is due to a deficiency of the HexB gene. Clinical features are similar to those of Tay-Sachs disease. Late infantile, juvenile and adults variants have also been described. 

Patients with sialidosis show a striking syndrome characterized by action myoclonus, cerebellar ataxia and a macular cherry red spot similar to that in Tay-Sachs disease but with preserved intellect. 

In contrast, the Tay-Sachs disease test patented by the Department of Health and Human Services costs about 100 per test, and the screening test for two breast cancer genes patented by a biotechnology firm costs 2,400 per test (Krimsky, 1999). 

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. 

Tay-Sachs disease, 76, 279 testing associated with, 195-196, 307 Technological change, policy implications of, 236-237... 

Examples of genetic conditions that are more common in particular ethnic groups are sickle cell anemia, which is more common in people of African, African-American, or Mediterranean heritage and Tay-Sachs disease, which is more likely to occur among people of Ashkenazi (eastern and central European) Jewish or French Canadian ancestry. It is important to note, however, that these disorders can occur in any ethnic group. 

Mutations in splice sites have now been documented in many different diseases induding P-thalassemia. Gaudier disease, and Tay-Sachs,... 

A 30-year-old man is phenotypically normal, but two of his siblings died from infantile Tay-Sachs disease, an autosomal recessive condition that is lethal by the age of five. What is the risk that this man is a heterozygous carrier of the disease-causing mutation ... 

Individuals with a family history of an autosomal or X-linked recessive disease may wish to know whether they are a heterozygous carrier of the disease. This can be established by genetic diagnosis (e.g., for cystic fibrosis, hemochromatosis, PKU, or albinism). In some specific cases, a population at high risk for a specific disease may be screened for carrier status using genetic diagnosis (e.g., Tay-Sachs disease in the Jewish population [see Clinical Correlate]). 

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