Methods and Systems for Detecting Methylation of Fragile X

A system for determining methylation of an FMRI gene in a sample from a subject comprising:

• a component for isolating total nucleic acid from the sample;
• a component for fragmenting the isolated total nucleic acid to a specific size range;
• a component for contacting a first portion of the fragmented nucleic acid with a methyl binding protein
• a component for collecting a fraction of the nucleic acid that is enriched for methylated nucleic acid and a fraction of the nucleic acid that is enriched for unmethylated nucleic acid;
• a component to perform PCR amplification of the FMRI gene separately for the nucleic acid that is enriched for methylated nucleic acid and the fraction of the nucleic acid that is enriched for unmethylated nucleic acid;
• and
• a component to determine if FMRI gene sequences are present in the nucleic acid fraction enriched for methylated nucleic acid and/or the nucleic acid fraction enriched for unmethylated nucleic acid or both.

A computer readable media comprising instructions to perform a method for determining methylation of an FMRI gene in a sample from a subject comprising the steps of:

• determining the presence or absence of an FMRI amplification product in both a fraction of nucleic acid enriched for methylated nucleic acid and a fraction enriched for unmethylated nucleic acid;
• determining the size of the FMRI amplification product in at least one of the fraction enriched for methylated nucleic acid and the fraction enriched for unmethylated nucleic acid;
• comparing the size of the amplification product for the fraction enriched for methylated nucleic acid and the fraction enriched for unmethylated nucleic acid to the size of the at least one FMRI amplification product for total nucleic acid;
• and
• determining size of the FMRI amplification product in at least one of the fraction enriched for methylated nucleic acid and the fraction enriched for unmethylated nucleic acid as being the size of the size of the at least one FMRI amplification product for total nucleic acid.