| First Author | Gilbert F | Year | 1975 |
| Journal | Proc Natl Acad Sci U S A | Volume | 72 |
| Issue | 1 | Pages | 263-7 |
| PubMed ID | 1054503 | Mgi Jnum | J:5526 |
| Mgi Id | MGI:54004 | Doi | 10.1073/pnas.72.1.263 |
| Citation | Gilbert F, et al. (1975) Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc Natl Acad Sci U S A 72(1):263-7 |
| abstractText | 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. |
