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. 2016 Sep 1;3:16027. doi: 10.1038/hgv.2016.27

Figure 2.

Figure 2

Chromatograms of the novel mutations in patients 1448 and 1335 and amplification refractory mutation system PCR (ARMS-PCR) gel electrophoresis result for c.17_20delGGTT mutation. (a) Sequence chromatograms showing the novel 4-bp deletion in the first exon of KHDC3L gene in patient 1448 (homozygous) and her paternal aunt (heterozygous) along with control subject with the normal sequence. (b) Agarose gel electrophoresis results of ARMS-PCR. Top panel shows the amplification of a 260-bp PCR product with mutant primers only in patient 1448 (lane 1) and not in six normal individuals (lanes 2–7). Lower panel shows the absence of PCR amplification with normal primers in patient 1448 (lane 1), but the amplification of a 264-bp product in normal individuals (lanes 2–7). The 100-bp DNA ladder is depicted on the right. (c) Sequence chromatogram showing the novel mutation affecting the donor splice site of KHDC3L intron 2 in patient 1335.