Untersuchungen zu familiären und rassespezifischen ...

The χ 2 -test statistics for distributions of genotypes, alleles and number of alleles
between cases and controls is shown in Table 5. With exception of the marker
ABGc012 all markers and the allelic distribution test failed the nominal threshold of
significance for significant association with the lundehund-syndrome. Taking into
account multiple testing, there was no significant association among the AMN-
associated markers and the lundehund-syndrome.
We tested the association of haplotypes with affection status, including all five
genotyped polymorphic microsatellite markers and subsets of these markers. The
marker-trait associations were not significant and no significant haplotype could be
found, because all the different haplotype distributions did not deviate significantly
among GE-affected and unaffected animals. Table 6 shows the haplotypes estimated
for the markers ABGc012, ABGc018, ABGc020 and ABGc021. Two haplotypes (176-
310-126-162 and 176-310-124-162) seem to occur very frequently in affected
animals. But we found also seven healthy dogs homozygous and several more
unaffected dogs heterozygous for these haplotypes. So we conclude that these
haplotypes occur quite frequently in the Norwegian lundehund population in general.
Neither the three flanking SNP markers from the Broad Institute SNP collection nor
any other polymorphism in these products could be identified in the sequences of
four unaffected and four GE-affected Norwegian lundehunds. There was a complete
match to the reference sequence for all these sequences. Moreover, no
polymorphism could be found in the coding sequence of AMN, all sequenced affected
and non-affected lundehunds were completely concordant to each other and to the
reference sequence (NC_006590.1).