Analysis of int22h-related rearrangements. (A) Results of DAHH. Three sets of haplotypes were assembled in wild-type males, and 5 sets of haplotypes were assembled in wild-type females. The fusion fragments int22h-1/2or3 and int22h-3/1 were identified in samples with Inv22 type I (use A1 as an example for the male Inv22 type I, and A4-2 as an example for the female Inv22 type I carrier.) A9 and A12 are considered int22h-related complex variants. (B) LR-PCR for int22h-related rearrangements. The locations of the 5 primers (H1F, H2F, H3F, H1R, and H2/3R) in the reference genome. (C) Results of LR-PCR. Five primers were used in different combinations to amplify int22h-1, int22h-2, int22h-3, and the fusion fragments int22h-1/2or3, int22h-2/1, and int22h-3/1. Samples A1, A2, A4, A6, A7, and A10 were identified as Inv22 type I; samples A4-2 and A10-2 were identified as Inv22 type I carriers; and samples A9 and A12 are int22h-related complex variants.
Figure 3.

Analysis of int22h-related rearrangements. (A) Results of DAHH. Three sets of haplotypes were assembled in wild-type males, and 5 sets of haplotypes were assembled in wild-type females. The fusion fragments int22h-1/2or3 and int22h-3/1 were identified in samples with Inv22 type I (use A1 as an example for the male Inv22 type I, and A4-2 as an example for the female Inv22 type I carrier.) A9 and A12 are considered int22h-related complex variants. (B) LR-PCR for int22h-related rearrangements. The locations of the 5 primers (H1F, H2F, H3F, H1R, and H2/3R) in the reference genome. (C) Results of LR-PCR. Five primers were used in different combinations to amplify int22h-1, int22h-2, int22h-3, and the fusion fragments int22h-1/2or3, int22h-2/1, and int22h-3/1. Samples A1, A2, A4, A6, A7, and A10 were identified as Inv22 type I; samples A4-2 and A10-2 were identified as Inv22 type I carriers; and samples A9 and A12 are int22h-related complex variants.

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