Figure 2

DNA blots and PCR assays for the detection of AZFc rearrangements. (A)- Eco RV DNA blot analysis with the 49f probe (DYS1). The deletion of DAZ1 (specific for amplicon r1) and DAZ4 (amplicon r4) are indicated by absence of the 10.8 and 7.3 kb fragments, respectively. 1- Control sample (no deletions). 2- DAZ1 deletion. 3- DAZ4 deletion. (B)- AZFc STS panel for the detection of partial deletions: sY1201 (677 bp), sY1291 (527 bp), sY1197 (453 bp), sY1206 (394 bp), sY1192 (255 bp), and sY142 (196 bp). 1- Control sample (no deletions). 2- sY1192 negative (gr/gr deletion after b2-b3 inversion, or b2/b3 deletion after a gr-rg inversion). 3- sY1291 negative (gr/gr deletion). M- 100 bp DNA marker. Higher intensity band corresponds to 600 bp. (C)- Novel sequence-family variants (SFVs) digestion profiles. For each SFV: 1- Allele A+B. 2- Allele A. 3- Allele B. For fragment size and allele amplicon specificity please consult Table 1. M- 100 bp DNA marker. Higher intensity band corresponds to 600 bp.