1. by Martin de Boer, Egbert Bakker, Stefaan Van Lierde, and Dirk Roos
Somatic Triple Mosaicism in a Carrier of X-Linked Chronic Granulomatous Disease
by Martin de Boer, Egbert Bakker, Stefaan Van Lierde, and Dirk Roos
Blood
Volume 91(1):
January 1, 1998
©1998 by American Society of Hematology

2. Martin de Boer et al. Blood 1998;91:252-257
©1998 by American Society of Hematology

3. Martin de Boer et al. Blood 1998;91:252-257
©1998 by American Society of Hematology

4. Size analysis of PCR products from cDNA.
Size analysis of PCR products from cDNA. Primers were chosen on exon 4 and exon 10 (Table 1). The PCR products were separated in agarose and visualized with ethidium bromide. Lane 1 contains material from a healthy control donor, lane 2 from the youngest patient, lane 3 from the eldest patient, lane 4 from the mother of the patients, and lane 5 from the maternal grandmother of the patients. Lane M contains size markers of 100 bp.
Martin de Boer et al. Blood 1998;91:
©1998 by American Society of Hematology

5. Localization of deletions in the CYBB gene of the two patients.
Localization of deletions in the CYBB gene of the two patients. The shaded area indicates the deletions, comprising a 3.5-kb nucleotide stretch from intron 5 to intron 7 in patient 1 (the eldest brother) and a 3.0-kb nucleotide stretch from intron 4 to intron 5 in patient 2 (the youngest brother). The deletions overlap for 35 bp.
Martin de Boer et al. Blood 1998;91:
©1998 by American Society of Hematology

6. Size analysis of PCR products from genomic DNA
Size analysis of PCR products from genomic DNA. Primer 1 (sense) was chosen on intron 4, primer 2 (antisense) on intron 5, primer 3 (sense) on intron 5 and primer 4 (antisense) on intron 7 (for positions, see Fig 3; for compositions, see Table 1).
Size analysis of PCR products from genomic DNA. Primer 1 (sense) was chosen on intron 4, primer 2 (antisense) on intron 5, primer 3 (sense) on intron 5 and primer 4 (antisense) on intron 7 (for positions, see Fig 3; for compositions, see Table 1). Primers 2 and 3 hybridize with DNA sequences within the deletions of patient 1 and patient 2, respectively (Fig 3). Therefore, PCR (a), with primers 3 and 4, only leads to product formation with DNA from patient 1 (not with DNA from a healthy control donor because these primers then hybridize too far apart to lead to product formation under the PCR conditions used). PCR (b), with primers 2 and 3, only leads to product formation with DNA from a healthy control donor. PCR (c), with primers 1 and 2, only leads to product formation with DNA from patient 2. The figure shows the results of PCR (a), (b), and (c) obtained with DNA from a healthy control donor, patient 1 (the eldest brother), patient 2 (the youngest brother), the mother of the patients (3), and the maternal grandmother of the patients (4). The four lanes marked M contain size markers of 100 bp.
Martin de Boer et al. Blood 1998;91:
©1998 by American Society of Hematology

7. Pedigree of the CGD family.
Pedigree of the CGD family. Haplotype analysis was performed with X-chromosome-specific markers flanking the CYBB gene, ie, two CA repeats in the DMD gene and one Msp I polymorphism in the OTC gene.
Martin de Boer et al. Blood 1998;91:
©1998 by American Society of Hematology