Single cell analysis of some deletion in dystrophin gene exons and gender determination by 3-plex nested PCR / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 389-391, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-328869
ABSTRACT
<p><b>OBJECTIVE</b>To set up a technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene, and to evaluate the possibility of using this technique for preimplantation genetic diagnosis(PGD) of deleted Duchenne muscular dystrophy (DMD) with family history.</p><p><b>METHODS</b>Fifty single lymphocytes of a normal male and fifty of a normal female were obtained for detecting dystrophin gene(exon 51, exon 19, exon 48) and SRY gene by 3-plex nested PCR.</p><p><b>RESULTS</b>In the group of exon 51/exon 19/SRY, the amplification rates of exon 51, exon 19 and SRY in male were 96%, 94% and 94%; the amplification rates of exon 51 and exon19 in female were 94% and 94%, respectively. In the exon 48/exon 19/SRY group, the amplification rates of exon 48, exon 19 and SRY in male were 92%, 90% and 94%, the amplification rates of exon 48, exon 19 in female were 94% and 92%, respectively.</p><p><b>CONCLUSION</b>The technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene established in this study is highly sensitive, specific and reliable, and is suitable for PGD of deleted DMD with family history.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Reação em Cadeia da Polimerase
/
Éxons
/
Reprodutibilidade dos Testes
/
Distrofina
/
Deleção de Sequência
/
Diagnóstico Pré-Implantação
/
Processos de Determinação Sexual
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Artigo
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