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Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients / 中华医学遗传学杂志
Article 在 Zh | WPRIM | ID: wpr-245332
Responsible library: WPRO
ABSTRACT
<p><b>OBJECTIVE</b>[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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Subject(s)
全文: 1 索引: WPRIM 主要主题: Achondroplasia / Polymorphism, Restriction Fragment Length / Protein-Tyrosine Kinases / DNA / DNA Mutational Analysis / Chemistry / Receptors, Fibroblast Growth Factor / Point Mutation / Polymorphism, Single-Stranded Conformational / Receptor, Fibroblast Growth Factor, Type 3 研究类型: Diagnostic_studies / Prognostic_studies 限制: Female / Humans / Male 语言: Zh 期刊: Chinese Journal of Medical Genetics 年: 2002 类型: Article
全文: 1 索引: WPRIM 主要主题: Achondroplasia / Polymorphism, Restriction Fragment Length / Protein-Tyrosine Kinases / DNA / DNA Mutational Analysis / Chemistry / Receptors, Fibroblast Growth Factor / Point Mutation / Polymorphism, Single-Stranded Conformational / Receptor, Fibroblast Growth Factor, Type 3 研究类型: Diagnostic_studies / Prognostic_studies 限制: Female / Humans / Male 语言: Zh 期刊: Chinese Journal of Medical Genetics 年: 2002 类型: Article