A complete mutation screen of the ADPKD genes by DHPLC

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A complete mutation screen of the ADPKD genes by DHPLC Sandro Rossetti, Dominique Chauveau, Denise Walker, Anand Saggar-Malik, Christopher G. Winearls, Vicente E. Torres, Peter C. Harris, Ph.D. Kidney International Volume 61, Issue 5, Pages 1588-1599 (May 2002) DOI: 10.1046/j.1523-1755.2002.00326.x Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 1 Map of the PKD1 gene showing the fragments employed for specific amplification of the duplicated part of the gene (top) and the locations of detected mutations in the indicated pedigrees (bottom; details are in Table 4). The mutation types are: I/F, in-frame deletion; M, missense; N, nonsense; F/S, frame-shifting deletion/insertion; and S, splicing. Kidney International 2002 61, 1588-1599DOI: (10.1046/j.1523-1755.2002.00326.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 2 Examples of aberrant denaturing high-pressure liquid chromatography (DHPLC) profiles obtained from analysis of PKD1 exon fragments, as indicated. Kidney International 2002 61, 1588-1599DOI: (10.1046/j.1523-1755.2002.00326.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 3 (A). Examples of aberrant DHPLC obtained from analysis of PKD2 exon fragments, as indicated. (B; top) Segregation analysis of the mutation Q2158X; found in the proband (2116) and affected father (2115) but not normal control and (bottom) S2164X; present in the proband (1565) and her affected father (1590), but not unaffected brother (1652) or control. Kidney International 2002 61, 1588-1599DOI: (10.1046/j.1523-1755.2002.00326.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 4 Examples of sequence data showing: (A) nonsense mutation Q266X; 1007C→T; (B) missense change Y2092C; 6486A→G and (C) insertion, 12521insA. Kidney International 2002 61, 1588-1599DOI: (10.1046/j.1523-1755.2002.00326.x) Copyright © 2002 International Society of Nephrology Terms and Conditions