Kartierungsstudien und funktionelle Kandidatengenanalyse für Tot- und Schwergeburt in der deutschen Fleckviehpopulation

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.