目的　探讨GBA基因突变及基因检测在戈谢病诊断中的意义。方法　分析3个无血缘关系的戈谢病家系先 证者及其家庭成员的临床资料及基因检测结果。结果　家系1先证者发现c.907C>A与 c.1448T>C的复合杂合突变，分别 遗传自父母；家系2先证者发现c.1174delC与c.1226A>G的复合杂合突变，分别遗传自父母，经HGMD检索，变异c.1174delC 的致病性目前未见有文献报道，为新发现突变；家系3先证者发现c.1342G>C的纯合核苷酸变异与c.1263_1317del的杂 合核苷酸变异，c.1263_1317del杂合突变遗传自父亲。结论　GBA基因突变为3个戈谢病家系的致病原因，临床上可通过 分子遗传学手段进行戈谢病的基因诊断。

Objective　To explore the significance of GBA gene mutation and gene detection in diagnosis of Gaucher disease. Method　The clinical data and genetic testing results of 3 probands from 3 unrelated Gaucher families and their family members were analyzed. Results　A compound heterozygous mutation of c.907C>A and c.1448T>C was found in the proband of the first family, which was inherited from parents respectively. Another complex heterozygous mutation of c.1174delC and c.1226A>G was found in the proband of second family, which was inherited from parents respectively, and the variant c.1174delC was a new mutation, which has not been reported in the literature according to the search by HGMD. The homozygous nucleotide variation of c.1342G>C and heterozygous nucleotide variation of c.1263_1317del was found in the proband of the third family and the c.1263_1317del heterozygous mutation was inherited from father. Conclusion　The mutation of GBA gene was the cause of Gaucher disease in these 3 families and Gaucher disease can be diagnosed by molecular genetics in clinic.