BioMed Research International / 2009 / Article / Tab 1

Methodology Report

Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males

Table 1

Molecular testing of 1399 males suspected of having fragile X syndrome.

Methylation (+)Methylation (–)
Screening PCRSBH MB-PCRSBH MB-PCR

Venous bloodStrong219§0021960
Weak0
Failed10*101000
BloodspotStrong1140
Weak #16*221414
Failed #14*121222
Total1399242423576

Methylation (+) and Methylation (–): presence and absence of methylated FMR1 promoter, respectively; SBH: Southern blot hybridization; MB-PCR: methyl-CpG-binding PCR; §: of which 60 cases were randomly selected for the blinded test; *: all cases included for the blinded test; #: SBH was performed using resubmitted venous blood samples.

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