Clinical Utility of Testing

The demonstration of deficient glucocerebrosidase activity in leukocytes establishes a diagnosis of GD but is unreliable for carrier detection. Therefore, molecular genetic testing is useful for carrier identification, prenatal testing, and genetic counseling.

Figure 8-1. Exon/intron structure of the GBA gene and the pseudogene copy YGBA. Exons are indicated by boxes with Roman numeral designations, and introns are indicated by lines. Dotted lines are deletions within the pseudogene relative to the gene. Positions of mutations are indicated by arrow heads. Neither 84GG nor N370S is present in the pseudogene,whereas IVS2+1G—>A,55 bp del,D409H,and L444P are pseudogene specific.

Figure 8-1. Exon/intron structure of the GBA gene and the pseudogene copy YGBA. Exons are indicated by boxes with Roman numeral designations, and introns are indicated by lines. Dotted lines are deletions within the pseudogene relative to the gene. Positions of mutations are indicated by arrow heads. Neither 84GG nor N370S is present in the pseudogene,whereas IVS2+1G—>A,55 bp del,D409H,and L444P are pseudogene specific.

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