Association mapping of the central part of porcine chromosome 2 harboring QTLs for carcass and meat quality traits was performed with 17 gene-tagged SNPs located between 44.0 and 77.5 Mb on a physical map (Sscrofa10.2) in Italian Large White pigs. For the analyzed animals records of estimated breeding values for average daily gain, back fat thickness, lean cuts, ham weight, feed conversion ratio, pH1, pHu, CIE L*, CIE a*, CIE b* and drip loss were available. A significant QTL for fat deposition (adjusted P=0.0081) and pH1 (adjusted P=0.0972) to MYOD1 at position 44.4 Mb and a QTL for growth and meatiness (adjusted P=0.0238-0.0601) to UBL5 at position 68.9 Mb were mapped. These results from association mapping are much more accurate than those from linkage mapping and facilitate further search for position candidate genes and causative mutations needed for application of markers through marker assisted selection.
- MeSH
- chov MeSH
- fenotyp MeSH
- jednonukleotidový polymorfismus MeSH
- koncentrace vodíkových iontů MeSH
- kvalita jídla * MeSH
- lokus kvantitativního znaku * MeSH
- mapování chromozomů metody MeSH
- maso analýza MeSH
- MyoD Protein genetika MeSH
- prasata genetika MeSH
- tělesná hmotnost MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. There are two major histopathological types of RMS – embryonal (eRMS) and alveolar (aRMS). A molecular study of Igf2, MyoD1 and Myogenin was performed to determine the expression profiles and to assess the possible utility of these genes as potential treatment targets. Patients with RMS showed up to 100-fold increase of Igf2 transcription in comparison with normal skeletal muscle. Our data suggest that overexpression of Igf2 occurs in RMS of both histological subtypes. No correlation between the results of Igf2 mRNA expression and LOH at the 11p15 region (p= 0.12) was observed, but there was a trend of a higher expression of Igf2 mRNA in RMS samples with LOH. We observed a high level of MyoD1 mRNA in both aRMS and eRMS, and we detected a similar level of MyoD1 mRNA in RMS and normal skeletal muscles. There was a correlation between the results of MyoD1 mRNA expression and LOH at the 11p15 region.We did not observe any statistical difference in the level of Myogenin mRNA in the subgroups of RMS. Analogous to MyoD1, we observed a similar level of Myogenin mRNA in RMS and normal skeletal muscles.
- MeSH
- alveolární rhabdomyosarkom genetika MeSH
- dospělí MeSH
- embryonální rhabdomyosarkom genetika MeSH
- fúzní onkogenní proteiny genetika MeSH
- insulinu podobný růstový faktor II genetika MeSH
- kosterní svaly metabolismus patologie MeSH
- kostní dřeň metabolismus patologie MeSH
- lidé MeSH
- messenger RNA genetika MeSH
- míra přežití MeSH
- MyoD Protein genetika MeSH
- myogenin genetika MeSH
- nádorové biomarkery genetika MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- prognóza MeSH
- transkripční faktor PAX7 genetika MeSH
- ztráta heterozygozity MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Childhood rhabdomyosarcoma (RMS) has two major histological subtypes: alveolar (aRMS) and embryonal. The aim of the study was to monitor minimal disseminated disease (MDD) using real-time quantitative reverse-transcription PCR (RQ-RT-PCR) of the PAX3-FKHR, PAX7-FKHR fusion genes and myoD1 gene. We prepared an assay using RQ-RT-PCR for a quantitative assessment of MDD in aRMS by using hydrolysis probe for quantification of PAX3-FKHR, PAX7-FKHR and myoD1 genes and beta-2-microglobulin housekeeping gene. Primary tumor samples (44), samples of local recurrences (26) from 48 patients with aRMS were examined by nested RT-PCR and RQ-RT-PCR techniques. Additionally, bone marrow samples (115), peripheral blood progenitor cell samples (27), and peripheral blood samples (25) from 33 aRMS patients were tested. PAX3/7-FKHR and myoD1 transcripts proved to be a sensitive tool for detection of MDD in RMS. We were able to identify 15/25 patients with bone marrow (BM) involvement at the time of presentation using RQ-RT-PCR. We analyzed PAX3-FKHR or PAX7-FKHR expression during the course of the disease. The RQ-RT-PCR results correlated well with nested RT-PCR results (p < 0.0001). The presence of metastases is the most adverse prognostic factor in RMS, and bone marrow is a frequent site of the tumor dissemination in RMS, especially in aRMS. Our results detecting the fusion transcripts or myoD1 transcript in the BM or peripheral blood suggest that patients with positive findings are at high risk of the tumor progression.
- MeSH
- alveolární rhabdomyosarkom chemie genetika patologie MeSH
- dítě MeSH
- embryonální rhabdomyosarkom genetika patologie MeSH
- forkhead transkripční faktory analýza MeSH
- kojenec MeSH
- kostní dřeň chemie patologie MeSH
- lidé MeSH
- lokální recidiva nádoru patologie MeSH
- mladiství MeSH
- mladý dospělý MeSH
- MyoD Protein genetika MeSH
- nádorové biomarkery analýza MeSH
- polymerázová řetězová reakce s reverzní transkripcí metody MeSH
- předškolní dítě MeSH
- prognóza MeSH
- rekombinantní fúzní proteiny analýza MeSH
- rhabdomyosarkom chemie genetika mortalita patologie MeSH
- transkripční faktor PAX7 analýza MeSH
- transkripční faktory paired box analýza MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
