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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness

Fig. 3

A The purified PCR product of the affected individual (IV.1) are indicated in the Blat DNA sequence alignment tool from the UCSC Genome Browser (your seq in the picture). The deleted region covers the exon one of the TMIE gene and the surrounding areas. ENCODE Candidate Cis-Regulatory Elements around the deletion part are indicated by red (promoter-like signature), orange (proximal enhancer-like signature), and yellow (distal enhancer-like signature) color. B A schematic depiction of the novel 9283 bp deletion and the positions of pair primers 1 and 2 upstream and 3 downstream were used for validation of this deletion in the TMIE gene. The nucleotides before and after the deleted region are shown in the image with the numbers 46,694,175 and 46,703,460, respectively. C Sanger sequencing electropherograms of the TMIE deletion mutation were identified in this study

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