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Vogl, Ina (2010): Kartierungsstudien und funktionelle Kandidatengenanalyse für Tot- und Schwergeburt in der deutschen Fleckviehpopulation. Dissertation, LMU München: Faculty of Veterinary Medicine
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Abstract

It is very important to work against the increase of stillbirth and calving difficulties in the German Simmental population from breeding, economics and animal protections point of view. The igf2r, esr1 and sod2 were chosen from earlier analysis as candidate genes for stillbirth. igf2r was excluded as a candidate gene during analysis because the inactivation of the paternal Allel was proven with the microsatellite LMU0901 in comparison between genomic DNA and cDNA. The candidate genes esr1 and sod2 were tested for variations in their sequences and in their expression. Three mutations in the esr1 Exons I, IV and VIII were detected, but none of them leads to an amino acid change. A little change in the expression rate of esr1 could be observed by Real Time PCR analyses which suggest its involvement in the signal cascade of the causal gene for the stillbirth trait. But it is not directly involved. Three mutations could be detected in the mRNA sequence of sod2. One of them causes an amino acid change. However, it could not be associated with the trait of stillbirth. In both RNA samples, heart and liver, no change in expression rate of sod2 through Real Time analyses was detected. Four QTLs were found in the genome wide association and mapping studies. They are localised on BTA01, BTA05, BTA06 and BTA21.