Estimated ratios of ΔGT/GTGT sequence in the normal population and in carriers of A47°CGD.

The ratios of ΔGT- to GTGT-containing sequence in 53 unrelated control individuals unaffected by CGD were determined from electropherogram peak height measurements as described in “Materials and methods.” Within this group, separation of symbols on the horizontal axis is for purposes of clarity only. DNA samples from 9 carrier parents of A47°CGD patients homozygous for ΔGT (ΔGT/ΔGT) were analyzed in the same way. For the experiment shown in the final column, DNA from each of 3 controls (2:1 ratio) was mixed with an equal amount of DNA from a ΔGT/ΔGT patient prior to PCR amplification and estimation of the ΔGT/GTGT ratio. Mean values are presented in Table 1, together with confirmatory data using a second, independent method.