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. 2000 Aug 1;67(3):610–622. doi: 10.1086/303050

Figure 7.

Figure 7

Location, on the chromosome 22 map, of the breakpoint in patient AJ. Genetic markers are shown in the correct order, but distances are not to scale. The positions of the markers on the sequence map are according to the start position of the clone in which they are found. The breakpoint in patient AJ was originally mapped, by LOH and densitometric analysis, to the interval D22S95–D22S94. “2” denotes two copies of a marker; “1,” one copy of a marker; and “c,” loci that were typed by RFLP/LOH analysis. The breakpoint sequence (AJ-111b) in patient AJ shows strong homology to a region of BAC clone bk268H5 (vertical bar on sequence map) which is within the interval originally defined by LOH but which is >2 Mb distal to the interval defined by densitometry studies. Analysis of three highly polymorphic STR loci showed that patient AJ had two alleles at the D22S282 and D22S274 loci but only one allele at the D22S1169 locus, consistent with the location of the breakpoint in patient AJ that was identified on the sequence map of chromosome 22. Some of the information shown in this figure was obtained from the Sanger Centre Chromosome 22 Database.