Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter
The objectives of this study was to examine the prevalence of hypertrophic cardiomyopathy in a family of British Shorthaircats to determine the mode of inheritance and to investigate if the disease was associated with a mutation in myosin binding proteinC (MyBPC3). The family comprised 28 cats, s...
| Autor principal: | |
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| Formato: | Otro |
| Lenguaje: | sueco sueco |
| Publicado: |
2008
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| Materias: | |
| Acceso en línea: | https://stud.epsilon.slu.se/11770/ |
| _version_ | 1855571935635701760 |
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| author | Welander, Victoria |
| author_browse | Welander, Victoria |
| author_facet | Welander, Victoria |
| author_sort | Welander, Victoria |
| collection | Epsilon Archive for Student Projects |
| description | The objectives of this study was to examine the prevalence of hypertrophic
cardiomyopathy in a family of British Shorthaircats to determine the mode of
inheritance and to investigate if the disease was associated with a mutation in myosin
binding proteinC (MyBPC3). The family comprised 28 cats, seven male and 21
females. The cats underwent a physical examination, including cardiac auscultation,
and an ultrasound examination. Blood was collected for DNA- analysis. The
blodsamples were sent in a buffer solution to Kathryn Meurs, Washington State
University, USA for analysis, where the genes coding for MyBPC, Troponin I and T
were characterized using microsequencing technique.
Out of the 28 cats, 8 were diagnosed with HCM, 2 were diagnosed with congenital
heart disease but had no evidence of HCM. 2 cats were equivocal, meaning that HCH
could neither be excluded nor confirmed. The remaining cats were considered normal
and had no evidence of HCM or any other heart disease at the time of the
examination. In total, 8 cats were diagnosed with HCM and the remaining normal
when the pattern of inheritance was evaluated.
The mode of inheritance within this family could not be determined and an
autosomal, dominant inheritance could neither be confirmed nor dismissed.
This study indicates that the disease is not caused by a mutation in the same gene that
causes the disease in Maine Coon cats (MyBPC). No mutation in either the Troponin
C or T could be associated with the presence of HCM in the current family of British
Shorthair. |
| format | Otro |
| id | RepoSLU11770 |
| institution | Swedish University of Agricultural Sciences |
| language | Swedish swe |
| publishDate | 2008 |
| publishDateSort | 2008 |
| record_format | eprints |
| spelling | RepoSLU117702017-10-17T11:10:19Z https://stud.epsilon.slu.se/11770/ Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter Welander, Victoria Veterinary science and hygiene - General aspects The objectives of this study was to examine the prevalence of hypertrophic cardiomyopathy in a family of British Shorthaircats to determine the mode of inheritance and to investigate if the disease was associated with a mutation in myosin binding proteinC (MyBPC3). The family comprised 28 cats, seven male and 21 females. The cats underwent a physical examination, including cardiac auscultation, and an ultrasound examination. Blood was collected for DNA- analysis. The blodsamples were sent in a buffer solution to Kathryn Meurs, Washington State University, USA for analysis, where the genes coding for MyBPC, Troponin I and T were characterized using microsequencing technique. Out of the 28 cats, 8 were diagnosed with HCM, 2 were diagnosed with congenital heart disease but had no evidence of HCM. 2 cats were equivocal, meaning that HCH could neither be excluded nor confirmed. The remaining cats were considered normal and had no evidence of HCM or any other heart disease at the time of the examination. In total, 8 cats were diagnosed with HCM and the remaining normal when the pattern of inheritance was evaluated. The mode of inheritance within this family could not be determined and an autosomal, dominant inheritance could neither be confirmed nor dismissed. This study indicates that the disease is not caused by a mutation in the same gene that causes the disease in Maine Coon cats (MyBPC). No mutation in either the Troponin C or T could be associated with the presence of HCM in the current family of British Shorthair. Målet med detta arbete var att undersöka förekomsten av hypertrofisk kardiomyopati (HCM) hos en brittisk korthårsfamilj för att dels undersöka nedärvningsmönstret, samt undersöka huruvida samma mutation i Myosin Binding protein C (MyBPC3) genen förelåg hos denna familj. Denna mutation har tidigare visats leda till hypertrofisk kardiomyopati hos Maine Coon katter. Familjen omfattade 28 katter i 7 generationer, sju stycken hankatter och övriga honor. Katterna undersöktes genom klinisk undersökning (hjärtauskultation inkluderat) samt genom ultraljudsundersökning. Blodprov togs för DNA analys. Blodproven skickades i blodbuffert till Kathryn Meurs, Washington State University i USA där katterna testades för förekomst av den tidigare beskrivna mutationen i MyBPC3 genom microsequensing. Vidare karakterisering skedde även av katternas Troponin C och T gener. Av de 28 familjemedlemmarna fanns 8 stycken vara drabbade av HCM, 2 stycken diagnostiserades med annan medfödd hjärtsjukdom, men visade inte några tecken på HCM, 2 katter klassades som gränsfall, d.v.s. HCM kunde inte vare sig verifieras eller uteslutas. Övriga katter visade inga tecken på HCM eller annan hjärtsjukdom vid undersökningstillfället. Nedärvningsmönstret inom familjen kunde inte styrka en dominant, autosomal nedärvning. Denna typ av nedärvning kunde dock inte heller uteslutas. Ingen av katterna uppvisade någon sjukdomsalstrande mutation i generna som kodade för MyBPC3, Troponin C eller T. Hypertrofisk kardiomyopati hos katt förefaller sålunda vara en nedärvd egenskap hos Brittiska korthårskatter, men nedärvningsmönster kunde inte fastställas. Sjukdomen är inte orsakad av mutationer i generna som kodar för MyBPC3, Troponin C eller T. 2008-04-15 Other NonPeerReviewed application/pdf sv https://stud.epsilon.slu.se/11770/1/welander_v_171017.pdf Welander, Victoria, 2008. Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter. UNSPECIFIED, Uppsala. Uppsala: (VH) > Dept. of Clinical Sciences (until 231231) <https://stud.epsilon.slu.se/view/divisions/OID-715.html> urn:nbn:se:slu:epsilon-s-7919 swe |
| spellingShingle | Veterinary science and hygiene - General aspects Welander, Victoria Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| title | Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| title_full | Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| title_fullStr | Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| title_full_unstemmed | Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| title_short | Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| title_sort | hypertrofisk kardiomyopati hos en familj brittiska korthårskatter |
| topic | Veterinary science and hygiene - General aspects |
| url | https://stud.epsilon.slu.se/11770/ https://stud.epsilon.slu.se/11770/ |