Figure 6.
Figure 6 Genomic analysis of patients with XLP. a, Location
of the point mutation near exon 2 of patient A1; a mechanism is
shown to explain the generation of the variant from hSAP 55
found in all healthy individuals. b, Exon 2 sequence was
amplified by PCR from genomic DNA from patient A1 and from three
healthy individuals (CT-1, CT-2 and B3) and from two cell lines
(Raji and Jurkat). In addition, PCR products from 78 healthy
women and 30 healthy men were analysed (data not shown). DNA
products were digested with Mnl I and resolved on a 10%
polyacrylamide gel by standard methods. c, hSAP exon 1, exon 2,
exon 3 and exon 4 and BRCA1 exon 2 were amplified by PCR from
genomic DNA from patients A1, B1, B2 and B3, and from the cell
line Raji. DNA products were resolved on a 2% agarose gel.
55
found in all healthy individuals. b, Exon 2 sequence was
amplified by PCR from genomic DNA from patient A1 and from three
healthy individuals (CT-1, CT-2 and B3) and from two cell lines
(Raji and Jurkat). In addition, PCR products from 78 healthy
women and 30 healthy men were analysed (data not shown). DNA
products were digested with Mnl I and resolved on a 10%
polyacrylamide gel by standard methods. c, hSAP exon 1, exon 2,
exon 3 and exon 4 and BRCA1 exon 2 were amplified by PCR from
genomic DNA from patients A1, B1, B2 and B3, and from the cell
line Raji. DNA products were resolved on a 2% agarose gel.