两个先天性软骨发育不全家系的FGFR3基因突变研究  

Mutation Analysis on FGFR3 Gene in Two Chinese Achondroplasia Pedigrees

作　　者：谢亮 刘瀚旻 毛萌 代礼[3] Xie Liang;Liu Hanmin;Mao Meng;Dai Li(Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Fducation,West China Second University Hospital,Sichuan University,Chengdu,610041 China;Department of Pediartrics,West China Second University Hospital,Sichuan University,Chengdu 610041,China;National Center for Birth Defect Monitoring,West China Second University Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西第二医院出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]四川大学华西第二医院儿科,成都610041 [3]四川大学华西第二医院中国出生缺陷监测中心,成都610041

出　　处：《成都医学院学报》2018年第4期396-398,共3页Journal of Chengdu Medical College

基　　金：国家自然科学基金(No:30700679);国家重点基础研究发展计划项目(No:2007CB511905)

摘　　要：目的在两个先天性软骨发育不全家系成员中检测成纤维细胞生长因子受体3(FGFR3)基因突变。方法收集患者及其家系成员的外周血,提取基因组DNA。采用PCR扩增FGFR3第10外显子,直接测序产物检测基因突变。结果在两个家系的患者中均检测到G1138A突变,该突变使FGFR3蛋白第380位的甘氨酸被置换为精氨酸(Gly380Arg),而在正常的家系成员中没有发现该基因突变。结论本研究报道的家族性软骨发育不全是由FGFR3基因G1138A突变所致。Objectives To detect FGFR3 gene mutation in two Han Chinese families diagnosed with achondroplasia （ACH）. Methods Genomic DNA were extracted from the peripheral blood of the patients and their family members. The exon10 of fibroblast growth factor receptor 3 gene （FGFR3） was amplified using PCR . Subsequently , the resultant products were sequenced. Results The G1138A mutation in FGFR3 gene , which results in the substitution of arginine for glycine at the codon380 of FGFR3 protein （Gly380Arg）, was detected in all the patients, but not in normal family members. Conclusions The occurrence of achondroplasia might be attributed to FGFR3 gene G1138A mutation.

关 键 词：先天性软骨发育不全 FGFR3基因 突变 

分 类 号：R394.3[医药卫生—医学遗传学]