Estudio de la proteína FMRP en la raíz de cabello: aplicación al diagnóstico del síndrome del cromosoma X frágil

Soler, Maria Rife; Díaz, A. Sánchez; Ramos, Feliciano J.; Recasens, Margarita

doi:10.1016/s1695-4033(03)78756-6

Cited by 3 publications

(2 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…29 Sin embargo, más recientemente se acepta que la prevalencia del síndrome en estas poblaciones es muy baja, aproximadamente del 0% al 8% con un promedio del 1,8%. 14 Si el tamizaje se acompaña de una preselección con puntaje clínico para el síndrome, se puede mejorar la efi ciencia de este hasta un 6,7%. 30 Es quizás por ese motivo que la frecuencia en poblaciones seleccionadas chilenas fue muy alta, pues los sujetos que se estudiaron tenían fenotipo sugestivo de X frágil y algunos contaban con resultado citogenético positivo.…”

Section: _____________________________________________________unclassified

“…Sin embargo, esta frecuencia podría estar sobrestimada, debido a que el ensayo citogenético ya no se realiza por su baja especifi cidad y sensibilidad. 14 Esto obedece a que en el cromosoma X pueden expresarse otros sitios frágiles ubicados en las bandas Xq27-Xq28 (FRAXD, FRAXE, FRAXF), que son citológicamente indistinguibles del sitio FRAXA. Por otra parte, puede pensarse que la frecuencia del SXF es más baja en la población costarricense que la reportada para muchas poblaciones.…”

Section: _____________________________________________________unclassified

See 1 more Smart Citation

Tamizaje mediante inmunohistoquímica del síndrome del cromosoma X frágil en una población de niños y adolescentes costarricenses

Vindas-Smith¹,

Berger²,

Pino³

et al. 2011

AMC

View full text Add to dashboard Cite

Objetivo: El síndrome del cromosoma X frágil es la causa más frecuente de retraso mental hereditario. Al no existir un tratamiento correctivo, el tamizaje en cascada de poblaciones seleccionadas, mediante la detección de la proteína FMRP, es uno de los métodos más eficientes para prevenir la recurrencia de la enfermedad.Métodos: La población consistió de 118 estudiantes en escuelas de enseñanza especial o de pacientes referidos desde la consulta médica. Se determinó el porcentaje de expresión de FMRP en raíces de cabello y linfocitos de sangre periférica. Aquellos que resultaron positivos por cribado fueron sometidos a los ensayos moleculares confirmatorios.Conclusión: La técnica inmunohistoquímica para la detección de la FMRP, es un método relativamente sencillo, rápido, fiable y de bajo costo, por lo que es ideal para el cribado de poblaciones.

show abstract

Section: _____________________________________________________unclassified

Tamizaje mediante inmunohistoquímica del síndrome del cromosoma X frágil en una población de niños y adolescentes costarricenses

Vindas-Smith¹,

Berger²,

Pino³

et al. 2011

AMC

View full text Add to dashboard Cite

show abstract

Risk of cognitive impairment in female premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

Mínguez

Ibáñez

Ribate

et al. 2008

American J of Med Genetics Pt B

View full text Add to dashboard Cite

This report describes a study focused on the relationship between CGG repeat length, FMRP, mRNA levels and cognitive functioning in premutation carriers (PM) carriers of Fragile X Syndrome (FXS). We studied 60 females-43 with PM and 17 with normal (N) alleles-from 25 FXS Spanish families. The Wechsler scales were administered to all subjects and new blood samples and hair roots were taken to study mRNA and FMRP levels. Using lowess curves together with segmented models we showed that within the premutation range, IQ scores tend to decrease when the number of CGG repeats increases and the FMRP values decrease. Furthermore, we discovered cut-off points in the molecular variables that seem to change the probability of having some cognitive impairment. Specifically, for those PM females in the upper premutation range (CGG > or = 100) and with FMRP expression < 60% in hair roots, a 10% decrement of FMRP expression represents a significant decrease in IQ scores of about six points, which is more evident for Full-Scale IQ (P-value = 0.035) and Performance IQ (P-value = 0.045) than for Verbal IQ (P-value = 0.074). On the contrary, we did not find any significant correlation between FMR1 mRNA levels and the IQ scores, probably due to the fact that mRNA levels were measured in blood. In conclusion, our findings suggest that the PM can have some effect on cognitive ability in female carriers, although these effects may be subtle. In these cases, it would be advisable to carry out a hair root analysis of FMRP.

show abstract

FMR1Protein Expression in Blood Smears for Fragile X Syndrome Diagnosis in a Mexican Population Sample

Romero-Espinoza

Rosales-Reynoso

Willemsen

et al. 2010

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

Molecular diagnosis of fragile X syndrome (FXS) is carried out by Southern blot or polymerase chain reaction-Southern analysis; however, these procedures are expensive and time consuming, making it impractical for mass screening programs. Willemsen et al. developed and tested the diagnostic potential of a rapid antibody test on blood smears, based on the presence of fragile X mental retardation protein (FMRP) in peripheral lymphocytes from normal individuals and its absence in male patients with FXS. The diagnostic power of this antibody test is perfect for men, whereas the results are less specific for women. Validation of this procedure has been achieved mainly in the Caucasian population, but no reports including Latin American individuals have been published. To test this procedure, expression of FMRP in peripheral lymphocytes was achieved both in Mexican FXS patients and normal men and was compared with the molecular analysis of the CGG repetitive sequences of the FMR1 gene. The results of the antibody test, which measure the FMRP expression, entirely correlated with the molecular tests using polymerase chain reaction on DNA modified. Sensitivity and specificity of the test and the positive and negative predictive values were 100%. This noninvasive test requires one or two blood drops; it is rapid, simple, and inexpensive, making this procedure an ideal choice for screening large groups of male patients with mental retardation.

show abstract

Estudio de la proteína FMRP en la raíz de cabello: aplicación al diagnóstico del síndrome del cromosoma X frágil

Cited by 3 publications

References 15 publications

Tamizaje mediante inmunohistoquímica del síndrome del cromosoma X frágil en una población de niños y adolescentes costarricenses

Tamizaje mediante inmunohistoquímica del síndrome del cromosoma X frágil en una población de niños y adolescentes costarricenses

Risk of cognitive impairment in female premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

FMR1Protein Expression in Blood Smears for Fragile X Syndrome Diagnosis in a Mexican Population Sample

Contact Info

Product

Resources

About