Biomaterial Database

Heterozygote screening for Tay-Sachs disease: past successes and future challenges. 1996

M R Natowicz, and E M Prence

Division of Medical Genetics, E.K. Shriver Center, Waltham, MA 02254, USA.

Tay-Sachs disease (TSD) is an autosomal recessive, neurodegenerative disorder caused by a deficiency of beta-hexosaminidase A activity. Mass screening for TSD heterozygotes has been routine in the Ashkenazi Jewish population since the early 1970s. Recent advances in the molecular genetics and epidemiology of TSD require a reevaluation of heterozygote screening practices. The use of DNA-based analyses for a panel of common mutations detects about 98% of TSD mutations found in the Ashkenazi Jews and about 50% of TSD mutations found in the general non-Jewish population; enzyme-based analysis has nearly 100% sensitivity for all populations. We recommend 1) that members of several ethnic groups and persons with a family history consistent with TSD be offered testing for TSD heterozygosity and 2) that assays of enzyme activity be used as the primary screening tool, with mutation analysis used as an adjunct tool in certain cases.

UI	MeSH Term	Description	Entries
D008403	Mass Screening	Organized periodic procedures performed on large groups of people for the purpose of detecting disease.	Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001619	beta-N-Acetylhexosaminidases	A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.	beta-N-Acetylhexosaminidase,N-Acetyl-beta-D-hexosaminidase,beta-Hexosaminidase,beta-N-Acetyl-D-hexosaminidase,beta-N-Acetyl-hexosaminidase,N Acetyl beta D hexosaminidase,beta Hexosaminidase,beta N Acetyl D hexosaminidase,beta N Acetyl hexosaminidase,beta N Acetylhexosaminidase,beta N Acetylhexosaminidases
D013661	Tay-Sachs Disease	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.	G(M2) Gangliosidosis, Type I,Gangliosidosis G(M2), Type I,Gangliosidosis GM2, B Variant,Hexosaminidase A Deficiency Disease,Tay-Sachs Disease, B Variant,Amaurotic Familial Idiocy,B Variant GM2 Gangliosidosis,B Variant GM2-Gangliosidosis,Deficiency Disease Hexosaminidase A,Familial Amaurotic Idiocy,GM2 Gangliosidosis, B Variant,GM2 Gangliosidosis, Type 1,GM2 Gangliosidosis, Type I,GM2-Gangliosidosis, Type I,Gangliosidosis GM2 , Type 1,Gangliosidosis GM2, Type I,HexA Deficiency,Hexosaminidase A Deficiency,Hexosaminidase alpha-Subunit Deficiency (Variant B),Sphingolipidosis, Tay-Sachs,Amaurotic Idiocy, Familial,B Variant GM2-Gangliosidoses,Deficiency, Hexosaminidase A,Deficiency, Hexosaminidase alpha-Subunit (Variant B),GM2-Gangliosidosis, B Variant,Hexosaminidase alpha Subunit Deficiency (Variant B),Sphingolipidosis, Tay Sachs,Tay Sachs Disease,Tay Sachs Disease, B Variant,Tay-Sachs Sphingolipidosis,Type I GM2-Gangliosidosis