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Genetic analysis of primary cataract, persistent pupillary membrane and distichiasis with reV = residual correlation between traits i and j on the <strong>und</strong>erlying continuous scale, reobs = residual correlation between traits i and j on the observed scale, pj = frequency of outcome 1 for trait j, and zj = ordinate of a standard normal distribution at the threshold point corresponding to a fraction pj of the population which has the character in question. Results On average, each single-colored ECS was examined 1.81 ± 1.04 times and each multi-colored ECS was examined 1.71 ± 1.03 times in its life by a veterinary expert for ophthalmology. About 50% of the single-colored ECS and more than 42% of the multi-colored ECS were examined between two and six times. Mean age at first ophthalmological examination was 2.83 ± 1.76 years in single-colored ECS and 3.00 ± 1.86 years in multi-colored ECS. Age at first ophthalmological examination varied between one and seven years for most of the single- and multi-colored examined dogs. In the multiply examined dogs the last registered examination took place with 3.92 ± 2.12 years of age in the single-colored ECS and 4.00 ± 2.11 years of age in the multi-colored ECS. Among the single-colored ECS analyzed in this study, the age at first diagnosis was 3.41 ± 1.84 years for CAT, 1.87 ± 0.85 years for CAT-early, 5.08 ± 0.94 years for CAT-late, 2.91 ± 1.65 years for PPM, 3.09 ± 1.88 years for DIST, and 5.29 ± 1.02 years for PRA. Among the multi-colored ECS, the age at first diagnosis was 4.28 ± 2.32 years for CAT, 2.02 ± 0.82 years for CAT-early, 5.91 ± 1.52 years for CAT-late, 2.77 ± 1.82 years for PPM, 3.12 ± 1.82 years for DIST and 4.79 ± 2.15 years for PRA. Cumulative distribution of age at diagnosis of CAT is given in Figure 1. Table 2 shows the prevalences of the analyzed PIED separately for single-colored and multi-colored ECS. CAT was diagnosed almost three times as often and PPM was diagnosed more than four times as often in single-colored as in multi-colored ECS. Conversely, PRA was diagnosed almost three times as often in multi-colored as in singlecolored ECS. In Table 3, the prevalences of CAT, PPM and DIST for the offspring of unaffected and affected sires and dams separately for single- and multi-colored ECS are shown. Ophthalmological data was available for 71 sires and 149 dams in single-colored ECS and for 60 sires and 149 dams in multi-colored ECS. For CAT-early in single-colored ECS, there were seven affected sires with a total of 21 offspring of which three animals were affected by CAT-early, and five affected dams with a total of eight offspring of which none 36
Genetic analysis of primary cataract, persistent pupillary membrane and distichiasis was affected by primary cataract. For CAT-late in single-colored ECS, there were ten affected sires with a total of 57 offspring of which two animals were affected by CAT-late and nine animals by CAT-early, and 17 affected dams with a total of 35 offspring of which two animals were affected by CAT-late and two animals by CAT-early. About 8 to 9% of the single-colored progeny were affected by CAT-early and about 2 to 4% by CAT-late when parents were unaffected by CAT-early or CAT-late. In the analyses of variance, age at first diagnosis or at last ophthalmological examination was significant for CAT in the single-colored ECS (P = 0.04). The prevalence of CAT significantly increased with the inbreeding coefficient for CAT and CAT-early in singlecolored ECS (P < 0.01) as well as for CAT-early in multi-colored ECS (P = 0.03). None of these effects had a significant influence on the prevalence of CAT-late in single-colored ECS and on the prevalence of CAT, CAT-early and CAT-late in multi-colored ECS. Likewise, a significant influence of non-genetic effects could not be fo<strong>und</strong> for the prevalence of PPM in single- and multi-colored ECS. The prevalence of DIST was significantly influenced by the number of ophthalmological examinations per dog (P < 0.01). As the number and size of distichia may change over time, dogs with repeated ophthalmological examinations were more likely to be diagnosed as affected by DIST than singularly examined dogs (Table 4). Results of the genetic analyses for CAT, PPM and DIST are given in Table 5 and for CATearly, CAT-late, PPM and DIST in Table 6. Heritability estimates in the linear model ranged between h 2 = 0.04 and h 2 = 0.39 in single-colored ECS and between h 2 = 0.01 and h 2 = 0.40 in multi-colored ECS. Heritabilities transformed onto the liability scale were hDL 2 = 0.15 for CAT, hDL 2 = 0.34 for CAT-early, hDL 2 = 0.13 for CAT-late, hDL 2 = 0.46 for PPM, and hDL 2 = 0.62 for DIST in single-colored ECS. Standard errors of heritabilities ranged between 0.02 and 0.06 before and between 0.07 and 0.13 after transformation. In the single-colored ECS, moderately to highly negative additive genetic correlations were estimated between CAT and PPM (rg = -0.37 ± 0.25), between CAT-late and PPM (rg = -0.92 ± 0.13) and between CATearly and DIST (rg = -0.28 ± 0.19). Residual correlations were in the range of -0.09 to 0.20 (SEre = 0.03 – 0.05) before and -0.30 to 0.35 (SEre = 0.09 – 0.11) after transformation. In the multi-colored dogs, heritabilities transformed onto the liability scale were hDL 2 = 0.06 for CAT, hDL 2 = 0.13 for CAT-early, hDL 2 = 0.14 for CAT-late, hDL 2 = 0.10 for PPM, and hDL 2 = 0.61 for DIST. Standard errors of heritabilities ranged between 0.02 and 0.06 before and 37
Page 4 and 5: Bibliografische Informationen der D
Page 6 and 7: Wissenschaftliche Betreuung: Prof.
Page 9 and 10: Contents Chapter 1 Introduction …
Page 11 and 12: Introduction CHAPTER 1 Introduction
Page 13 and 14: Introduction Hannover. Chapter 2 re
Page 15 and 16: Review of canine primary cataract C
Page 17 and 18: Review of canine primary cataract 1
Page 19 and 20: Review of canine primary cataract p
Page 21 and 22: Review of canine primary cataract (
Page 23 and 24: Review of canine primary cataract R
Page 25 and 26: Review of canine primary cataract E
Page 27 and 28: Review of canine primary cataract K
Page 29 and 30: Review of canine primary cataract S
Page 31 and 32: Review of canine primary cataract T
Page 33 and 34: Table 3 (continued) Review of canin
Page 35 and 36: Table 3 (continued) Review of canin
Page 37 and 38: Genetic analysis of primary catarac
Page 45: Genetic analysis of primary catarac
Page 63 and 64: Retrospective study on prevalence a
Page 81 and 82: CHAPTER 5 Genetic evaluation of pri
Page 83 and 84: Zusammenfassung Auf der Basis von o
Page 85 and 86: Materials and methods The results o
Page 87 and 88: Results The 615 ophthalmologically
Page 89 and 90: Discussion Phenotype based selectio
Page 91 and 92: References BARNETT, K.C. (1976): Co
Page 93 and 94: Tab. 2: Means and ranges of relativ
Page 95 and 96: Tab. 4: Prevalences of early onset
Page 97 and 98:
Fig. 1: Cumulative percentages of p
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Fig. 3: Cumulative percentages of p
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Evaluation of canine HSF4 with here
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Molecular genetic analysis of prima
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Position of gene (Mb) Molecular gen
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General discussion General discussi
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General discussion (Rubin, 1989; Ge
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General discussion References Barne
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General discussion 132
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Summary Anja Engelhardt (2007) Summ
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Summary advantageous selection stra
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Erweiterte Zusammenfassung Anja Eng
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Zusammenfassung und 617 mehrfarbige
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Zusammenfassung einem einfachen rez
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Zusammenfassung Evaluierung des Hit
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Zusammenfassung Kopplungs- und Asso
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Appendix Appendix Table 1 Survey of
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Appendix Table 3 Survey of 45 micro
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Table 3 (continued) Appendix VI
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Position of gene (Mb) Table 4 (cont
Page 166 and 167:
Position of gene (Mb) Appendix Tabl
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Position of gene (Mb) Table 5 (cont
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Appendix Legend for pedigrees consi
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Appendix Figure 2 Second pedigree o
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Appendix Figure 4 Pedigree of wire-
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Appendix Figure 6 Pedigree of subfa
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Laboratory paraphernalia Equipment
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dNTP solution Appendix 100 µl dATP
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Enzymes Appendix Taq-DNA-Polymerase
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Publications CHAPTER 12 List of pub
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Publications XXX
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Acknowledgements Acknowledgements M
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