Figure 4.

Validation of copy numbers of the CYLD gene by qPCR. The figure showed copy numbers of exons 18 and 20 quantified by QPCR. In order to adjust the influence of DNA concentration, we also randomly selected exon 9 in the normal regions as references. As the results, the proband (II‐5) and patients (I‐1, II‐2, II‐7, II‐9, III‐8), as well as two children of the proband (III‐5, III‐6), had only one copy at exons 18 and 20, while four unaffected family members (II‐4, III‐3, III‐4, III‐7) had nearly two copies