摘要
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.1174del C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.1174del C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.907 〉CA and c.1448 T〉C was found in the proband of the first family, which was inherited from parents respectively. Another complex heterozygous mutation of c.1174 del C and c.1226 A〉G was found in the proband of second family, which was inherited from parents respectively, and the variant c.1174 del C was a new mutation, which has not been reported in the literature according to the search by HGMD. The homozygous nucleotide variation of c.1342 G〉C and heterozygous nucleotide variation of c.1263_1317 del was found in the proband of the third family and the c.1263_1317 del 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.
作者
和宁辛
张文乾
张继要
董伟
罗强
王浩
赵亚梅
HE Ningxin, ZHANG Wenqian, ZHANG Jiyao, DONG Wei, LUO Qiang, WANG Hao, ZHAO Yamei(1.Department of Pediatrics, The first affiliated hospital of Zhengzhou University, Zhengzhou 450000, Henan, China;2. Department of Pediatrics, The Center Hospital of Nanyang, Nanyang 473000, Henan, Chin)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第6期459-462,共4页
Journal of Clinical Pediatrics
