Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 19; no. 3; p. 205
• Main Authors: Ni, Jihong, Lu, Guoqiang, Wang, Wei, Chen, Fengsheng, Qin, Huili, Wang, Defen
• Format: Journal Article
• Language: Chinese
• Published: China 01.06.2002
• Subjects: Achondroplasia - genetics; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; Female; Humans; Male; Point Mutation; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor - genetics
• ISSN: 1003-9406

[corrected] To investigate the mutation at the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) nucleotide 1138 site for identifying the major pathologic mechanism of achondroplasia (ACH) and to evaluate the efficacy of denaturing gradient gel electrophoresis(DGGE) method for screening the point mutations. The genomic DNA from 17 clinically diagnosed ACH patients where analysed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) with Sfc I and Msp I restriction endonucleases and by PCR-DGGE technique for screening. G to A transition mutation at nucleotide 1138 was detected in 14/17 of the ACH patients as heterozygotes by PCR-RFLP with Sfc I digestion. No 1138 G to C transition was detected by Msp I digestion. All of the 14 samples with G to A mutation were also found to be positive for point mutation by PCR-DGGE. No mutation was detected in 3 negative samples by PCR-RFLP, implying that there was actually no point mutation in this amplified region. Nucleotide 1138