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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Reação em Cadeia da Polimerase
/
Primers do DNA
/
Proteína do X Frágil da Deficiência Intelectual
/
Fluorescência
/
Síndrome do Cromossomo X Frágil
/
Genética
/
Métodos
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS