| ABSTRACT | 第1-6页 |
| 摘要 | 第6-11页 |
| Chapter 1 Introduction | 第11-14页 |
| ·Some basic concepts | 第11-12页 |
| ·Imprinting effects | 第12-13页 |
| ·Organization of this thesis | 第13-14页 |
| Chapter 2 A powerful parent-of-origin effects test for qualitative traits incorporating controlchildren in nuclear families | 第14-44页 |
| ·Introduction | 第14-16页 |
| ·Materials and methods | 第16-22页 |
| ·Background and notations | 第16-17页 |
| ·Methods only using unaffected children and their parents | 第17-19页 |
| ·Methods using both unaffected and affected children and their parents | 第19-22页 |
| ·Results | 第22-27页 |
| ·Settings | 第22-24页 |
| ·Size and power of PATu and PAT | 第24-25页 |
| ·Size and power of 1-PATu and 1-PAT | 第25页 |
| ·Size and power of C-PATu and C-PAT | 第25-27页 |
| ·Application to Framingham Heart Study | 第27-29页 |
| ·Discussion | 第29-30页 |
| ·Appendix | 第30-44页 |
| ·Control-parents trios provide information on parent-of-origin effects in the presence of association between marker allele M_1 and disease | 第30页 |
| ·Unbiased estimator of variance of PATo for control-parents trios | 第30-31页 |
| ·Unbiased estimator of variante of 1-PAT_0 | 第31-33页 |
| ·Detailed expressions of X_(12),Y_(12),X_(11) and Y_(11) | 第33页 |
| ·Unbiased estimator of variance of PATu | 第33-34页 |
| ·Unbiased estimator of variance of 1-PATu | 第34-36页 |
| ·Figures and tables | 第36-42页 |
| ·Simulation study for less genotypic relative risks | 第42-44页 |
| Chapter 3 Powerful haplotype-based Hardy-Weinberg equilibrium tests for tightly linked loci | 第44-61页 |
| ·Introduction | 第44-47页 |
| ·Materials and methods | 第47-54页 |
| ·Likelihood function and EM algorithm under HWE | 第47-48页 |
| ·Two forms of HWD | 第48-49页 |
| ·Likelihood function and haplotype-based HWE test under Niu's model | 第49-51页 |
| ·Likelihood function and HWE test under inbreeding model | 第51-54页 |
| ·Results | 第54-57页 |
| ·Simulation settings | 第54-55页 |
| ·Simulation results | 第55-57页 |
| ·Discussion | 第57-58页 |
| ·Appendix | 第58-61页 |
| ·Conditional maximum-steps of ECM algorithm | 第58-59页 |
| ·Tables | 第59-61页 |
| Reference | 第61-65页 |
| 硕士论文发表情况 | 第65-66页 |
| 致谢 | 第66-68页 |
| 附件 | 第68-69页 |
