The top five genes with a high absolute value of coefficient factor, namely, 10825 (NEU3), 2720 (GLB1), 074 (HEXB), 129807 (NEU4), and 2519 (FUCA2), are selected to represent the genes for this canonical variable (Figure 4(b), Table 1).
The expression levels of metabolic genes, namely, 2583 (B4GALNT1), 2720 (GLB1), and 3074 (HEXB), were determined by q-PCR.
The genetic diagnosis of GM1 gangliosidosis due to the p.Arg201Cys mutation of the GLB1 gene in the studied family was possible and rapid by combining chromosomal microarray analysis (CMA) and whole exome sequencing (WES).
Only the p.Arg201Cys missense mutation in GLB1 was reported to be damaging and responsible for the gangliosidosis type II disease.
Under our assay conditions, this was the contribution by one or more non-GALC enzymes in the lysate (possibly GLB1).
 Nonstandard abbreviations: GALC, galactocerebrosidase; MS/MS, tandem mass spectrometry; GALC-S, galactosylceramide with a 7-carbon heptanoyl chain; GALC-IS, GALC internal standard; GALC-P, GALC product; GLB1, human [beta]-galactosidase-1; MRM, multiple reaction monitoring; LC, liquid chromatography; dpm, disintegration per minute; EIKD, early-infantile Krabbe disease; LOKD, late-onset Krabbe disease.
Se han descrito por lo menos 140 mutaciones del gen GLB1
, distribuidas de forma diferente entre los grupos etnicos .
en 2006 (11), quienes demostraron que la SA-[beta]-gal esta codificada por el gen GLB1
(gen de la [beta]-galactosidasa lisosomica), reportaron que aunque los niveles de la enzima aumentan durante el estado senescente, su actividad no es indispensable para el inicio de dicho estado.
There were two QTLs associated with albino plant regeneration, glb1
and abc171; abc171 was identified on the basis of regression analysis only.