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Untersuchungen zu familiären und rassespezifischen ...

Untersuchungen zu familiären und rassespezifischen ...

Untersuchungen zu familiären und rassespezifischen ...

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software (multipoint engine for rapid likelihood inference, version 1.1) (Abecasis et<br />

al., 2002). The Zmean and LOD score test statistics were used to test for the<br />

proportion of alleles shared by affected individuals identical by descent (IBD) for the<br />

considered marker loci (Kong and Cox, 1997; Kruglyak et al., 1996; Whittemore et<br />

al., 1994). The best option of MERLIN was used to estimate haplotypes.<br />

The CASECONTROL procedure of SAS/Genetics, version 9.2 (Statistical Analysis<br />

System, Cary, NC, USA) based on χ 2 -tests for genotypes, alleles and trends of the<br />

alleles was used for association testing. For estimation of allele frequencies and to<br />

test genotype frequencies for Hardy-Weinberg equilibrium the ALLELE procedure of<br />

SAS/Genetics was employed. Moreover, we used the HAPLOTYPE procedure of<br />

SAS/Genetics to test for trait-marker association.<br />

Results and discussion<br />

Neither the c.3G>A SNP fo<strong>und</strong> in a kindred of Australian Shepherds nor the c.1113-<br />

1145del mutation described in Giant Schnauzers could be identified in this 17<br />

Norwegian l<strong>und</strong>eh<strong>und</strong>s. All genotyped l<strong>und</strong>eh<strong>und</strong>s were homozygous for the wildtype<br />

alleles.<br />

We developed eleven microsatellite markers flanking AMN. Six of these markers<br />

were homozygous for all 17 genotyped l<strong>und</strong>eh<strong>und</strong>s, and five microsatellites were<br />

polymorphic. The results of the tests for Hardy-Weinberg equilibrium, the observed<br />

levels of heterozygosity (HET), polymorphism information content (PIC) and allelic<br />

diversity for the developed microsatellite markers are shown in Table 4. The non-<br />

parametric multipoint linkage analysis did not show significant Zmeans or LOD<br />

scores.

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