Figure 4.

Determination of the AGG interruption pattern in three premutation (PM) carriers by TP_RPT-PCR. The AGG interruption pattern was assessed by PCR using three primers, Not_FraxC, Not_FraxF, and either Fmr1_CCG5 (A) or Fmr1_CGG5 (B), as described in Materials and Methods. The arrowheads in A and B indicate the full-length PCR product. The arrows in A indicate the location of the AGG interruptions. The inset in A shows a magnification of the region close to the 5′ end of the repeat. The brackets indicate the location of the interruptions. The insets in B show the same samples amplified with a 40:1 ratio of the external primers to the repeat containing primer. M, male; RFU, relative fluoresence units.