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.%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.
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