Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 844-848, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-345349
ABSTRACT
<p><b>OBJECTIVE</b>To screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations.</p><p><b>METHODS</b>Potential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls.</p><p><b>RESULTS</b>All positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent.</p><p><b>CONCLUSION</b>Tri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Reacción en Cadena de la Polimerasa
/
Cartilla de ADN
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Fluorescencia
/
Síndrome del Cromosoma X Frágil
/
Genética
/
Métodos
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
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