Characterization of a recurrent 3

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Characterization of a recurrent 3 Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene Sha Tang, Siby P. Moonnumakal, Blair Stevens, Ganka Douglas, Sally Mason, Eric S. Schmitt, Christine M. Eng, Marcia Katz, Ping Fang Journal of Cystic Fibrosis Volume 12, Issue 3, Pages 290-294 (May 2013) DOI: 10.1016/j.jcf.2012.08.017 Copyright © 2012 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 MLPA detected a heterozygous deletion of CFTR exons 17a and 17b in both patient I (top) and patient II (bottom). The MLPA F508del probe also detected a heterozygous p.I507del (in patient I) or p.F508del (in patient II) mutation. Journal of Cystic Fibrosis 2013 12, 290-294DOI: (10.1016/j.jcf.2012.08.017) Copyright © 2012 European Cystic Fibrosis Society. Terms and Conditions

Fig. 2 Structure of the rearrangement breakpoints. (A) Location of the breakpoints, primers, and the previously reported c.3121-977_c.3499-248del2515 [8]. The 62bp inserted sequence is highly homologous to the part of the upstream sequences (c.2988+1586 to c.2988+1647), but inserted in an inverted orientation. (B) The rearranged region is flanked by a pair of perfectly inverted repeats of 32bp. The start and end of the 32bp repeats (blue arrows) are denoted by vertical dashed lines. The nucleotide sequence alignment shows that I and II (reverse-complemented) are highly homologous. Journal of Cystic Fibrosis 2013 12, 290-294DOI: (10.1016/j.jcf.2012.08.017) Copyright © 2012 European Cystic Fibrosis Society. Terms and Conditions

Fig. 3 A duplex PCR-based method for rapid detection/confirmation of the recurrent c.2988+1616_c.3367+356del3796ins62 mutation. PTI and PTII stand for the two patients described in this study that had the c.2988+1616_c.3367+356del3796ins62 mutation. NL1, NL2, and NL3 are three independent normal controls. NTC stands for non-template control for the reaction. Pos is the recombinant pCR®4-TOPO® plasmid that contained the ~1.3kb fragment amplified by CFdel17a+b-intF and CFdel17a+b-intR. Journal of Cystic Fibrosis 2013 12, 290-294DOI: (10.1016/j.jcf.2012.08.017) Copyright © 2012 European Cystic Fibrosis Society. Terms and Conditions