Biomaterial Database

Tay-Sachs disease and preimplantation genetic diagnosis. 2001

C Hansis, and J Grifo

Department of Obstetrics and Gynecology, NYU School of Medicine, New York, New York, USA.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D005260	Female		Females
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
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
D019836	Preimplantation Diagnosis	Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.	Diagnosis, Preimplantation,Preimplantation Genetic Diagnosis,Diagnosis, Preimplantation Genetic,Preimplantation Screening,Diagnoses, Preimplantation,Diagnoses, Preimplantation Genetic,Genetic Diagnoses, Preimplantation,Genetic Diagnosis, Preimplantation,Preimplantation Diagnoses,Preimplantation Genetic Diagnoses,Preimplantation Screenings,Screening, Preimplantation,Screenings, Preimplantation