1. Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes
- Author
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Raju Kucherlapati, M. J. Murnane, Frank H. Ruddle, R.P. Creagan, Gretchen J. Darlington, and F. Gilbert
- Subjects
Male ,Genetic Linkage ,Pyruvate Kinase ,Somatic Cell Genetics ,Hybrid Cells ,Biology ,Lipidoses ,Cell Line ,Mice ,Genetic linkage ,Animals ,Humans ,Hexosaminidase ,Chromosomes, Human, 4-5 ,Gene ,Synteny ,Genetics ,Multidisciplinary ,Autosome ,Chromosome Mapping ,Chromosome ,Molecular biology ,Hexosaminidase B ,Clone Cells ,Hexosaminidases ,Genes ,Female ,Carbohydrate Epimerases ,Mannose ,Research Article - Abstract
The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases.
- Published
- 1975
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