Biomaterial Database

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes. 1975

P V Donnelly, and N Di Ferrante

Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002460	Cell Line	Established cell cultures that have the potential to propagate indefinitely.	Cell Lines,Line, Cell,Lines, Cell
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D005615	Freezing	Liquids transforming into solids by the removal of heat.	Melting
D006025	Glycosaminoglycans	Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE).	Glycosaminoglycan,Mucopolysaccharides
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
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults