Diagnosing achondroplasia by single cell nested-PCR / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 228-231, 2003.
Article
en Zh
| WPRIM
| ID: wpr-248453
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD).</p><p><b>METHODS</b>The high-frequency mutation region G380R of fibroblast growth factor receptor 3(FGFR3) gene was amplified by nested-PCR with single lymphocyte and single blastomere. The products of PCR were digested by restriction enzyme Bfm I, then the digested products were detected by 10% polyacrylamida gel electrophoresis(PAGE).</p><p><b>RESULTS</b>The amplification success rate, allele dropout rate and correct diagnosis rate of single lymphocyte's PCR were 90.4%, 8.2% and 91.8%,respectively. The amplification success rate of single blastomere was 75.4%.</p><p><b>CONCLUSION</b>The diagnosis of ACH by single cell nested-PCR is comparatively stable and reliable.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Acondroplasia
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Análisis Mutacional de ADN
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Reacción en Cadena de la Polimerasa
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Sensibilidad y Especificidad
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Diagnóstico Preimplantación
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Técnicas de Diagnóstico Molecular
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Diagnóstico
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Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos
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Genética
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Métodos
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2003
Tipo del documento:
Article