Abstract: Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid β-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report here the results of the molecular-genetic analysis in 68 Russian GD patients from 65 families with the three types of the disease. We have identified 126 mutation alleles from 136 investigate alleles. In addition to known mutations p.N370S, c.1263-1317del (del55), p.L444P, p.R463C, Rec NciI, we identified rare mutations p.R120W, p.R170C, p.W184R, p.G202R, Rec C, presenting in other populations and mutations p.P236T, p.L249Q, p.L288P, p.P319S, p.V352M, p.W381X, p.A384D which are had not been described before.
Reference: Boukina T.M., Tsvetkova I.V., Distribution of mutations of acid β-d-glucosidase gene (GBA) among 68 russian patients with gaucher`s disease, Biomeditsinskaya khimiya, 2007, vol:
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