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Fig. 1 | BMC Pediatrics

Fig. 1

From: Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder

Fig. 1

FMR1 Region-specific CGG PCR and TP-PCR for seven samples with known CGG repeat lengths. a The CGG repeat size of seven samples with known genotype were analyzed on agarose gel after FMR1 region-specific CGG PCR. CGG sizes as determined by the TP-PCR assay or SB analysis is shown at the top of the image. For the premutation (PM) female sample, the gel image reveals the normal FMR1 allele on another chromosome. For the male sample with a full mutation (FM), the weak band (white arrow) indicates size mosaicism. M: DNA maker; NC: negative control, no DNA for PCR reaction. PCR amplicons from samples with a premutation (b) and full mutation (c) were also analyzed by capillary electrophoresis following the FMR1 TP-PCR assay. TP–PCR confirmed size mosaicism in the PM sample (69 and 91 repeats) and the FM sample (30, >200 repeats). This mosaicism was undetected by SB analysis. The black arrow indicates the normal allele, and red arrow indicates the PM allele. The blue arrow indicates the FM allele. The predicted size of the CGG repeats from TP-PCR is labeled

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