Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity

Table 3 β-Galactosidase activity measured in transiently transfected COS-1 cell lysates

Vector name	Specific Activity (nmol/hr/mg of protein)¹	Percentage of wild-type activity²
Controls
None	320 ± 21.1	0
pGS3 wt	534 ± 27.7	100
Variants
pGS3-H102D	346 ± 19.4	12
pGS3-c.495_497delTCT	237 ± 14.5	0
pGS3-A301V	260 ± 20.3	0
pGS3-G494V	294 ± 27.5	0

¹Enzyme activities are presented as average values of two independent experiments, as described in the Patients and Methods section.
²Specific activities were obtained after subtraction of activity in mock-transfected COS-1 cells measured as a baseline control in each experiment.

ISSN: 1423-0127