THE GENE ENCODING HUMAN GLUTATHIONE SYNTHETASE (GSS) MAPS TO THE LONGARM OF CHROMOSOME-20 AT BAND-11.2

Two forms of glutathione synthetase deficiency have been described. Wh ile one form is mild, causing hemolytic anemia, the other more severe form causes 5-oxoprolinuria with secondary neurological involvement. D espite the existence of two deficiency phenotypes, Southern blots hybr idized with a glutathione synthetase cDNA suggest that there is a sing le glutathione synthetase gene in the human genome. Analysis of somati c cell hybrids showed the human glutathione synthetase gene (GSS) to b e located on chromosome 20, and this assignment has been refined to su bband 20q11.2 using in situ hybridization. (C) 1995 Academic Press, In c.