Figure 2:

Molecular strategy for CAH-X quimeras. (A–B) Capillary gel electrophoresis. (A) Example of a run with several positive samples (tracks 2, 6, and 7), which exhibit the heteroduplex band (indicated in mustard color). The remainder of samples was negative for Del120pb. (B) Profile of the chromatogram obtained when screening was positive for heteroduplex. The peaks corresponding to alignment markers (in green), the amplicon (in maroon), and the resulting heteroduplex (in mustard) are indicated. (C) MLPA results: visualization of the results obtained for a Del120pb carrier (exon 35 TNXB). In green: probes corresponding to the CYP21A2 gene. In yellow: probes corresponding to the TNXB gene. Red arrows indicate the probes that hybridize against exon 35 of the TNXB gene. (D–F) Sequences corresponding to the regions containing SCAH-X characteristic variants. (D) Exon 40 of TNXB, where position c.12174C>G (p.Cys4058Trp) is indicated with an arrow, corresponding to a patient who was heterozygous for the variant analyzed. (E) Exon 41 of the TNXB gene. The arrow indicates position c.12218G>A (p.Arg4073His), which is characteristic of the CAH-X CH3 chimera. (F) Region corresponding to exon 43 of the TNXB gene. The arrows indicate positions c.12514G>A (p.Asp4172Asn) and c.12524G>A (p.Ser4175Asn), respectively (the two were heterozygous for the analyzed variants).