FXPOIfragile X-associated primary ovarian insufficiency
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La toxicidad por RNA induce a la muerte neuronal temprana en cultivo, por ende los portadores de la premutacion estan en riesgo de desarrollar desordenes del envejecimiento como FXTAS y FXPOI (11).
Por el contrario los portadores de la PM usualmente presentan un Coeficiente Intelectual normal con leves o sin caracteristicas fisicas; sin embargo, el 20% de las mujeres portadoras de la PM presenta FXPOI o FXTAS, y el 40% de los hombres portadores desarrolla FXTAS.
Importantly, although FMR1 CGG repeats are implicated in both FX syndrome (FXS) and FXPOI, the mechanisms of disease are very different.
Two predominant disease models have been proposed to explain FXPOI. The first model suggests a prenatal reduction in the developing oocyte pool in premutation carriers, resulting in exhaustion of ovarian capacity at a younger age following normal follicular maturation and ovarian function.
Conclusive diagnosis of FXPOI requires confirmation of increased serum FSH concentrations and detection of 55-200 CGG repeats in the 5' UTR of FMR1.
* Diagnosis of FXPOI requires detection of an expanded CGG repeat region in the premutation range, by PCR, sequencing, or Southern blot.
The assay may also be useful in voluntary screening programs for preconception females to identify PM or asymptomatic FM carriers, who would be at risk for FXPOI and/or having FXS-affected offspring.
[1] Nonstandard abbreviations: FM, full mutation; PM, premutation; FXS, fragile X syndrome; FXPOI, fragile X-associated primary ovarian insufficiency; FXTAS, fragile X-associated tremor/ataxia syndrome; MCA, melting curve analysis; msTP-PCR, methylation-specific triplet-primed PCR; GZ, gray zone; TT, threshold temperature; NL, normal; uTP-PCR, unmethylated allele triplet-primed PCR; mTP-PCR, methylated allele triplet-primed PCR.