Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane.

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Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders Corinne Bareil, Caroline Guittard, Jean-Pierre Altieri, Carine Templin, Mireille Claustres, Marie des Georges The Journal of Molecular Diagnostics Volume 9, Issue 5, Pages 582-588 (November 2007) DOI: 10.2353/jmoldx.2007.070040 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Strategy and position of the primers for IVS8-(TG)m and -Tn repeats analysis and (TG)mTn haplotyping. A: Position and sequence of the primers used for exon 9 and flanking regions amplification (first PCR). B: Focus on IVS8-(TG)mTn polymorphic region: position and sequence of the primers used for the three internal fluorescent PCRs. Upper case, 5′-end sequence of exon 9; lower case, 3′-end sequence of IVS8 containing the (TG)m and Tn repeats; in bold, primers used to determine the IVS8-(TG)mTn haplotypes; star, fluorescent label. The Journal of Molecular Diagnostics 2007 9, 582-588DOI: (10.2353/jmoldx.2007.070040) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 IVS8-(TG)mTn analysis. A: Electropherograms of IVS8-(TG)m, -Tn repeats, and (TG)mTn haplotypes for two patients ([(TG)9T9]+[(TG)12T5] and [(TG)10T7]+[(TG)11T7]). The peaks of interest are shown in black. B: Example of five different IVS8-(TG)m repeats. Because of the sequence context, IVS8-(TG)m repeats are slippage prone. From our experience, the interpretation rule is to consider only the highest and the last peak (in black). The Journal of Molecular Diagnostics 2007 9, 582-588DOI: (10.2353/jmoldx.2007.070040) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions