先天性软骨发育不全一家系的基因诊断

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。

Genetical diagnosis in a congenital achondroplasia family

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.