Genetic evaluation of feline hypertrophic cardiomyopathy /
Hypertrophic cardiomyopathy (HCM) is a primary disease of the
| Main Author: | |
|---|---|
| Format: | Thesis Book |
| Language: | English |
| Published: |
[Place of publication not identified] :
[publisher not identified] ;
1997.
|
| Subjects: | |
| Online Access: | http://proxy.library.tamu.edu/login?url=http://proquest.umi.com/pqdweb?did=736580531&sid=1&Fmt=2&clientId=2945&RQT=309&VName=PQD |
| Summary: | Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle characterized by concentric hypertrophy of the left ventricular walls and diastolic dysfunction. Hypertrophic cardiomyopathy in human beings is frequently caused by an inherited defect in the gene of a cardiac structural protein inherited with an autosomal dominant pattern of transmission. Familial HCM is one of the most common forms of inheritable cardiac disease in human beings. The most common genetic abnormalities responsible for the development of familial HCM are point mutations in the P- myosin heavy chain (P-MHC) gene. All but one of the reported mutations in this gene are found in the region that codes for the head of the molecule. One deletion mutation has been documented within the rod region. Clinical and pathological features of HCM in the domestic cat closely resemble those in human beings. Feline HCM was proposed to have a similar genetic etiology and to be a model of familial HCM in human beings. Four families of domestic cats with HCM were identified, supporting the hypothesis that feline HCM is familial. The most extended family of cats affected with HCM was evaluated for a pattern of inheritance. I-Estorical and clinical evaluation was available on 28 cats from eight generations. All surviving members of this family were evaluated for evidence of HCM. The pattern of inheritance was believed to be autosomal dominant based on pedigree evaluation of the cats. Affected cats from all four feline families with HCM were evaluated for the MHC mutations observed in human beings with HCM. Clinical evaluation was performed to confirm the absence or presence of disease. DNA was evaluated using the Polymerase Chain Reaction to amplify key exons in the P- NMC gene responsible for the development of HCM in people. Single stranded conformational polymorphism and sequence analysis of these regions revealed nine polymorphisms. We believe that feline familial HCM may be an important model for the study of HCM in human beings, but we do not believe that the myosin heavy chain gene is an important candidate gene for the feline disease. |
|---|---|
| Item Description: | Vita. "Major Subject: Genetics". |
| Physical Description: | x, 67 leaves : illustrations ; 28 cm. Issued also on microfiche from University Microfilms Inc. |
| Bibliography: | Includes bibliographical references: pages 63-66. |