All classically affected hemizygote Fabry patients and all heterozygous Fabry females with relatives with classic disease manifestation examined so far showed abnormally high plasma concentrations of lysoGb3.
The deacylated form of globotriaosylceramide, globotriaosylsphingosine (lysoGb3), is increased approximately 100-fold in the plasma of symptomatic Fabry hemizygotes and it is also increased in the plasma of symptomatic Fabry females (5), a finding that has been confirmed by other studies (6-9).
Although the concentration of lysoGb3 in plasma samples of male Fabry hemizygotes was 100 times higher than in those of healthy individuals, the wide linear dynamic range and the great sensitivity allowed accurate quantification in both groups (Fig.
2] populations derived from both transformed lines and the recurrent parent cultivars were progeny-tested to determine if the observed numbers of homozygotes, hemizygotes, and wild-type plants fit the expected 1:2:1 genotypic ratio for a single-locus model of inheritance.
Homozygotes with the cryIA(b) gene insert averaged 14% more CryIA(b) protein than hemizygotes irrespective of background.
Analysis of the aggregated segregation data for all the populations derived from MON 249 and the recurrent parent lines also revealed a skewed ratio with fewer homozygotes and hemizygotes (P [is less than] 0.
In this study, we established a profile of sphingolipid species in the urine of Fabry hemizygotes and heterozygotes and in unaffected controls.
Urine samples from Fabry hemizygotes and heterozygotes were provided through the Australian Fabry Support Group and stored at -20[degrees]C.
As shown in Table 1, the concentrations of several lipid species differed significantly between the control and patient groups, with the SM C22:0 species providing total discrimination between the Fabry hemizygotes and unaffected controls.
We have used these assays to determine the concentration of [alpha]-galactosidase activity and protein in samples from Fabry hemizygotes, heterozygotes, apparently healthy controls, and other LSD patients.
Dried filter-paper blood spots were also obtained from previously diagnosed Fabry hemizygotes and heterozygotes.
In our series, most of the patients noninformative for the three STRs were revealed to be hemizygotes
by the characterization of a deletion junction fragment with probe pNEA102.