GMl - Gangliosidosis : Chromosome 3 Assignment of the ~ - Galactosidase - A Gene ( I
نویسنده
چکیده
A b s t r a c t T h e structural gene (/3GALA) coding for lysosomal t3-galactosidase-A (EC 3.2.1.23) has been assigned to human chromosome 3 using man-mouse somatic cell hybrids. Human t3-galactosidase-A was identified in cell hybrids with a species-specific antiserum to human liver/3-galactosidase-A. The antiserum precipitates fl-galactosidase-A from human tissues, cultured cells, and cell hybrids, and recognizes cross-reacting material from a patient with GMI gangliosidosis. We have analyzed 90 primary man=mouse hybrids derived from 12 separate fusion experiments utilizing cells from 9 individuals. Enzyme segregation analysis excluded all chromosomes for /3GALA assignment except chromosome 3. Concordant segregation of chromosomes and enzymes in 16 cell hybrids demonstrated assignment of /3GALA to chromosome 3; all other chromosomes were excluded. The evidence suggests that GMI gangliosidosis is a consequence of mutation at this/3GALA locus on chromosome 3.
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