NCF-1/ψNCF-1 genotypes in a family affected by A47°CGD.

Exon 2 of ψNCF-1/NCF-1 in genomic DNA from the members of a family affected by A47°CGD was amplified, and the ratio of ΔGT to GTGT sequence was estimated. Two sisters (●) have A47°CGD and are homozygous for the ΔGT mutation. Both parents were considered obligate carriers of the disease, but the ΔGT/GTGT ratio of the mother (⊙) was 2:1, identical to that of an unaffected individual. A third sister (○) was found to have a ΔGT/GTGT ratio of 1:1. These data indicate that the mother carries the ΔGT mutation inNCF-1 on one copy of chromosome 7 and one each of the type I and type II pseudogenes on the other copy. All other details are the same as in Figure 5.