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Paula Sienes Bailo

Servicio de Bioquímica Clínica. Hospital Universitario Miguel Servet

Wednesday, 30 December 2020

PREMUTATION-COMPLETE MUTATION MOSAICISM IN FMR1 GENE: TRIPLET PRIMED REPEAT-PCR

Written by Paula Sienes Bailo | Raquel Lahoz Alonso | Silvia Izquierdo Álvarez, Posted in Volumen15

MOSAICISMO PREMUTACIÓN-MUTACIÓN COMPLETA EN EL GEN FMR1: TRIPLET PRIMED REPEAT-PCR
Figure 1. Electropherogram of a healthy male studied to rule out the carrier status of the CGG triplet expansion in the FMR1 gene after the identification of family history.

Figure 1, electropherogram of a healthy 53-year-old male studied to rule out the carrier status of the CGG triplet expansion in the FMR1 gene after the identification of the premutation in this gene in his three siblings. AmplideXTM FMR1 PCR Reagents (Asuragen) with CGG Repeat Primed PCR and analysis of the fragments using the ABI 3130xl sequencer and GeneMapper 4.0 software were used in this study. The Triplet Primed Repeat-PCR (TP-PCR) is a modification of the PCR, specific for the study of repeated areas.