To estimate the imprecision of the new method, control plasma was supplemented with lysoGb3 at a high concentration comparable to concentrations found in hemizygote Fabry patients as well as a low concentration comparable to concentrations in heterozygotes.
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).
3) deficiency (McKusick 31125) causes severe disease in male hemizygote
neonates, and neonates with this deficiency present with lethargy, vomiting, coma, and hyperammonemia.
DHs are also a powerful tool in transgenesis, to avoid hemizygotes
and save time and resources in the production of plants transformed with the transgene in both homologous chromosomes.
A study of more than 2000 Gambian and Kenyan children found that the common African form of G-6-PD deficiency (G-6-PDA-) is associated with about 50% reduced risk of severe malaria in female heterozygotes and in male hemizygotes
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.