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
Chinese Journal of Medical Genetics
; (6): 205-208, 2002.
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>
全文:
1
索引:
WPRIM
主要主题:
Achondroplasia
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Polymorphism, Restriction Fragment Length
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Protein-Tyrosine Kinases
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DNA
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DNA Mutational Analysis
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Chemistry
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Receptors, Fibroblast Growth Factor
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Point Mutation
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Polymorphism, Single-Stranded Conformational
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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