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.
Artigo
em Chinês
| WPRIM
| ID: wpr-248453
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acondroplasia
/
Análise Mutacional de DNA
/
Reação em Cadeia da Polimerase
/
Sensibilidade e Especificidade
/
Diagnóstico Pré-Implantação
/
Técnicas de Diagnóstico Molecular
/
Diagnóstico
/
Receptor Tipo 3 de Fator de Crescimento de Fibroblastos
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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