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
en Zh
| WPRIM
| ID: wpr-245332
Biblioteca responsable:
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>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Acondroplasia
/
Polimorfismo de Longitud del Fragmento de Restricción
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Proteínas Tirosina Quinasas
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ADN
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Análisis Mutacional de ADN
/
Química
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Receptores de Factores de Crecimiento de Fibroblastos
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Mutación Puntual
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Polimorfismo Conformacional Retorcido-Simple
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Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2002
Tipo del documento:
Article