Assignment of Tangier disease to chromosome 9q31 by a graphical linkage
exclusion strategy
Stephan Rust et al.
Nature Genetics20, 96−
98 (1998).
Due to a printing error, accurate reproduction of
Figure 2 was compromised. The correct version is printed below.
Corrected colour-reprints are available from the authors
Fig. 2 Traffic-light evaluation of results. a, Testing
of sibpairs for shared segments showing IBD. Pedigree members are identified
as in Fig. 1. As an example of our data analysis, the results from the two
affected sibpairs E121/E122 and A11/A12 are shown. Markers were from the ABI
Prism linkage mapping set (T16-1 = D9S283, H14-4 = D9S287, H14-3
= D9S279, F16-4 = D9S290). For clarity, only the chromosome
transmitted from the affected parent is shown for each sib. Data are evaluated
in the column 'shared segment' for segments IBD, but using colours: E121/E122
share the segment [H14-3−F16-4] IBD, indicated by a solid frame surrounding
the segments, and the corresponding region in the column 'shared segment'
is labelled green (localization of the TD gene allowed). They do not share
the segment [T16-1−H14-4]. The corresponding segment is labelled red
(localization of the TD gene not allowed). In the analysis of sibpair A11/A12,
marker H14-4 was not informative due to homozygosity in the father. This is
indicated by a dashed frame and a yellow (undefined) segment in the column
'shared segment'. In the column 'IBD-sum', the combined results are shown
with each marker locus being excluded due to the previous IBD-tests. Yellow
arrowheads highlight the region between the coloured segments, where the bars
are interrupted and where we had no information on the IBD-status due to crossovers
in that region. b, Columns I and II depict the traffic-light results
from the 'shared segment' columns of (a) drawn to scale showing the
distances between the markers in cM. In this presentation, the critical crossover
region, highlighted in (a) by yellow arrowheads, is now coloured yellow,
indicating that the region may be IBD. Column III provides the summary of
all affected pair comparisons and is a simple alternate sequence of red and
yellow regions, where yellow indicates a need for further analysis. Therefore,
the additional markers T70-3 = D9S277, F73-01 = D9S53, F72-70
= D9S1784, F71-15 = D9S1832, F71-14 = D9S1801 and F72-82
= D9S1677 were analysed. Columns IV and V show the corresponding results
for the analysis of sibpairs E121/E122 and A11/A12. Column VI shows the overall
results from all sibpairs, which were obtained by labelling red all those
segments which were labelled red in at least one sibpair analysis. In the
summary bar (column VI) only those regions in which no red occurred in any
sibpair analysis are labelled green. Column VII shows the position of a heterozygous
deletion in chromosome 9 in an individual with a heterozygous low HDL phenotype.
All marker loci shown were typed in the patient and his parents. The patient
obtained one allele from each parent at H14-4 and F16-4 and had two different
alleles at these positions. These markers are labelled red to indicate the
outer limit of the deletion. Whereas the parents had four different alleles
at both the loci T70-3 and H14-3, the patient did not obtain an allele from
his father at these loci; this also applied to the intervening markers. The
deleted region is shown blank.
