Figure 2

Gene conversion events at DEFA1A3. A) The DEFA1A3 full and partial repeats are highly similar in their sequence, such that the partial repeats can be aligned with the full repeats (blue boxes). However, there are sequence differences between the DEFA1A3 full and partial repeats. Array CGH data and PCR analysis identified a sequence replacement in the DEFA1A3 telomeric partial repeat, in which the sequence from the equivalent region of the DEFA1A3 full repeats replaced the sequence in the telomeric partial repeat location. This occurred over approximately a 2.2 kb interval and is referred to as the “telomeric replacement polymorphism”. B) Sequence data for a 4.1 kb region within the DEFA1A3 centromeric partial repeat (red box) identified two additional gene conversion events- a ~140 bp event termed “Exchange 1” and a ~1990 bp event termed “Exchange 2”.