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.
Article
en Zh
| WPRIM
| ID: wpr-328869
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Reacción en Cadena de la Polimerasa
/
Exones
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Reproducibilidad de los Resultados
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Distrofina
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Eliminación de Secuencia
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Diagnóstico Preimplantación
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Procesos de Determinación del Sexo
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Genética
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Métodos
Tipo de estudio:
Diagnostic_studies
Aspecto:
Determinantes_sociais_saude
Límite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Article