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

Abstract

OBJECTIVE:

[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.

METHODS:

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.

RESULTS:

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.

CONCLUSION:

Nucleotide 1138 in transmembrane domain of FGFR3 gene is the hot point for mutation in ACH and hence its major pathologic cause. PCR-DGGE is a sensitive and reliable technique for point mutation screening, especially for the heterozygotes.

• Authors: Jihong Ni, Guoqiang Lu, Wei Wang, Fengsheng Chen, Huili Qin, Defen Wang
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 19 Issue 3 Pg. 205-8 (Jun 2002) ISSN: 1003-9406 [Print] China
• PMID: 12048679 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Receptors, Fibroblast Growth Factor
• DNA
• FGFR3 protein, human
• Protein-Tyrosine Kinases
• Receptor, Fibroblast Growth Factor, Type 3

Topics

• Achondroplasia (genetics)
• DNA (chemistry, 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)