The Identification of Eight Novel Glucocerebrosidase (GBA) Mutations in Patients with Gaucher Disease

被引：18

作者：

Orvisky, E. ^{[1
]}

Park, J. K. ^{[1
]}

Parker, A. ^{[1
]}

Walker, J. M. ^{[1
]}

Martin, B. M. ^{[1
]}

Stubblefield, B. K. ^{[1
]}

Uyama, E. ^{[2
]}

Tayebi, N. ^{[1
]}

Sidransky, E. ^{[1
]}

机构：

[1] NIMH, Clin Neurosci Branch, Sect Mol Neurogenet, NIH, Bethesda, MD 20892 USA

[2] Kumamoto Univ, Sch Med, Dept Neurol, Kumamoto 860, Japan

来源：

HUMAN MUTATION | 2002年 / 19卷 / 04期

关键词：

glucocerebrosidase; glucosidase; beta; acid; GBA; Gaucher disease; mutation analysis;

D O I：

10.1002/humu.9024

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T -> A) were identified by direct sequencing of three amplified segments of the glucocerebrosidase gene. Five of the novel mutations were found in patients with neuronopathic forms of Gaucher disease, two of which, K198E and F251L, appear to be associated with type 2 Gaucher disease. (C) 2002 Wiley-Liss, Inc.

引用

页码：458 / 459

页数：4

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