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Gaucher's disease (GD)is an autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (glucocerebrosidase) that results in the accumulation of glucocerebroside within macrophages.Many mutations have been reported to be associated with this disorder.We identifies a novel mutation (c.655A>G, p.T219A) in a compound heterozygous state within a Chinese patient with type 1 Gaucher's disease.Sanger sequencing is used to sequence GBA gene.Sequence alignments of mammalian GCase indicate that it is relatively conserved at p.T219A.3D Protein structure modeling predicts that this mutation differs from its wild type.A construct of this mutant and its compound heterozygous counterpart are used to measure GCase in vitro.The presence of the compound heterozygous mutations in two loci caused a reduction in GCase enzyme activity.This novel mutation (c.655A>G, p.T219A) is a pathogenic missense mutation which contributes to Gaucher's disease provides more data for the genetic pattern of the gene which will help the development of quick and accurate genetic diagnostic tools for the disease.