A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.

ABSTRACT:

Background

Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages. Many mutations have been reported to be associated with this disorder. This study aimed to discover more mutations and provide data for the genetic pattern of the gene, which will help the development of quick and accurate genetic diagnostic tools for this disease.

Methods

Genomic DNA was obtained from peripheral blood leukocytes of the patient and Sanger sequencing is used to sequence GBA gene. Sequence alignments of mammalian β-GBA (GCase) and three-dimensional protein structure prediction of the mutation were made. A construct of this mutant and its compound het

SUBMITTER: Liu LY 

PROVIDER: S-EPMC4852675 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature