先天性软骨发育不全一家系的基因诊断  

Genetical diagnosis in a congenital achondroplasia family

作　　者：朱娜[1] 王卫庆[1] 姜蕾[1] 叶蕾[1] 方文强[1] 毕宇芳[1] 关黎清[1] 赵咏桔[1] 宁光[1] 

机构地区：[1]上海第二医科大学附属瑞金医院内分泌代谢病科

出　　处：《中华内分泌代谢杂志》2004年第5期441-443,共3页Chinese Journal of Endocrinology and Metabolism

基　　金：上海市教委重点学科资助 (2 0 0 3 44)

摘　　要：目的　研究一中国人先天性软骨发育不全 (achondroplasia ,ACH)家系成纤维细胞生长因子受体 3 (FGFR3 )基因是否发生突变。方法　对该家系中两名临床诊断为ACH的患者以及其他 4名成员的DNA进行PCR ,并将PCR扩增产物直接测序。结果　测序显示两名患者存在FGFR3跨膜区 113 8位核苷酸G A的转换突变 ,且均为杂合子。结论　FGFR3跨膜区 113 8位核苷酸G A转换突变似为该ACH家系的主要发病原因。Objective To indentify the gene mutation of fibroblast growth factor receptor 3 (FGFR3) gene in a Chinese family with congenital achondroplasia (ACH). Methods The genomic DNA from 2 clinically diagnosed ACH patients and the other 4 members from the same family was prepared for PCR. The products of PCR were purified and then sequenced directly. Results Two patients with ACH in this family showed G-A transition mutation at nucleotide 1138 as heterozygotes. Conclusion The G-A transition mutation at nucleotide 1138 in transmembrane domain of FGFR3 gene seems to be the pathologic cause of this Chinese family with ACH.

关 键 词：家系 ACH 先天性软骨发育不全 突变 基因诊断 患者 成纤维细胞生长因子受体3 跨膜区 直接测序 DNA 

分 类 号：R681.3[医药卫生—骨科学] R714[医药卫生—外科学]