An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.
J Mol Diagn
; 7(5): 605-12, 2005 Nov.
Article
en En
| MEDLINE
| ID: mdl-16258159
ABSTRACT
Several diagnostic strategies have been applied to the detection of FMR1 gene repeat expansions in fragile X syndrome. Here, we report a novel polymerase chain reaction-based strategy using the Expand Long Template PCR System (Roche Diagnostics, Mannheim, Germany) and the osmolyte betaine. Repeat expansions up to approximately 330 CGGs in males and up to at least approximately 160 CGGs in carrier women could be easily visualized on ethidium bromide agarose gels. We also demonstrated that fluorescence analysis of polymerase chain reaction products was a reliable tool to verify the presence of premutation and full mutation alleles both in males and in females. This technique, primarily designed to detect premutation alleles, can be used as a routine first screen for expanded FMR1 alleles.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Reacción en Cadena de la Polimerasa
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Alelos
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Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
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Mutación
Límite:
Female
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Humans
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Male
Idioma:
En
Revista:
J Mol Diagn
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2005
Tipo del documento:
Article
País de afiliación:
Italia