Orvisky E, Park J K, Parker A, Walker J M, Martin B M, Stubblefield B K, Uyama E, Tayebi N, Sidransky E
Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Hum Mutat. 2002 Apr;19(4):458-9. doi: 10.1002/humu.9024.
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.
编码溶酶体酶葡萄糖脑苷脂酶（GBA）的基因突变会导致戈谢病。在本研究中，通过对葡萄糖脑苷脂酶基因的三个扩增片段进行直接测序，鉴定出了葡萄糖脑苷脂酶基因中的七个新的错义突变（A136E、H162P、K198E、Y205C、F251L、Q350X和I402F）以及一个剪接位点突变（IVS10+2T→A）。其中五个新突变在患有神经病变型戈谢病的患者中被发现，其中两个，即K198E和F251L，似乎与2型戈谢病有关。
