DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray Ching-Wan Lam, Kitty Kit-Ting.

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DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray Ching-Wan Lam, Kitty Kit-Ting Cheung, Nai-Ming Luk, Shirley Wen Chan, Kuen-Kong Lo, Sui-Fan Tong Journal of Investigative Dermatology Volume 124, Issue 1, Pages 87-91 (January 2005) DOI: 10.1111/j.0022-202X.2004.23563.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Upper half: electropherograms of exon 4 of the XPC gene of patient 1 with homozygous 445G>T (top panel) and her father with heterozygous 445G>T (bottom panel). Lower half: electropherograms of exon 9 of the XPC gene of patient 2 with heterozygous 1659C>T (top panel) and heterozygous 1209delG (bottom panel). The 1 bp deletion, 1209delG, causes a doubly heterozygous pattern: from 5′-CCTCCAGCGAGGAAGATGAGGGCCCAGGAGACAAGCAGGAGAAG-3′ to 5′-CCTCCAGCGAGGAAGATGA(G/G)(G/G)(G/C)(C/C)(C/C)(C/A)(A/G)(G/G)(G/A)(A/G)(G/A)(A/C)(C/A)(A/A)(A/G)(G/C)(C/A)(A/G)(G/G)(G/A)(A/G)(G/A)(A/A)(A/G)-3′. The sequences are shown in the sense direction. A heterozygous site is denoted by the letter N. Polymerase chain reaction (PCR): The genomic sequence of the human XPC gene was obtained from the NCBI human genome sequence database. All the exons and intron–exon boundaries of the XPC gene were amplified by PCR. The primer sequences and the PCR conditions are available on the Journal website (http://www.jidonline.org) as supplementary material. Mutational analysis: The PCR products were purified by Microspin S-300 HR columns (GE Healthcare, Uppsala, Sweden), and both strands were sequenced using the amplification primers as sequencing primers and BigDyeDeoxy terminator cycle sequencing reagents according to the manufacturer's instructions (Applied Biosystems, Foster City, California). Products of the sequencing reactions were purified by Centri-Sep spin columns (Princeton Separations, Adelphia, New Jersey). Purified sequencing fragments were separated by capillary electrophoresis and detected via laser-induced fluorescence on an ABI Prism 3100 genetic analyzer (Applied Biosystems). Journal of Investigative Dermatology 2005 124, 87-91DOI: (10.1111/j.0022-202X.2004.23563.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions