| CONTENTS | 第4-6页 |
| Abstract | 第6-7页 |
| Chapter 1 Introduction | 第8-22页 |
| 1.1 Infertility | 第8-10页 |
| 1.2 Genetic causes of male infertility | 第10-18页 |
| 1.2.1 Numerical abnormalities of chromosomes | 第11-12页 |
| 1.2.2 The Y-chromosome and azoospermia factor regions | 第12-18页 |
| 1.2.2.1 AZFa | 第13-14页 |
| 1.2.2.2 AZFb | 第14页 |
| 1.2.2.3 AZFc | 第14-16页 |
| 1.2.2.4 Genotype-phenotype correlations in infertile males with AZF region microdeletions | 第16-17页 |
| 1.2.2.5 Male infertility mediated by 3-'UTR translational regulation | 第17-18页 |
| 1.3 Complete androgen insensitivity syndrome | 第18-22页 |
| 1.3.1 Signs and symptoms of CAIS | 第18-19页 |
| 1.3.2 Role of AR mutation in CAIS | 第19-22页 |
| Chapter 2 Meiotic studies on Y chromosome microdeletions patients | 第22-42页 |
| 2.1 Material Methods | 第22-26页 |
| 2.1.1 Patients and normal controls | 第22-23页 |
| 2.1.2 Screening of Y chromosome micro-deletion | 第23页 |
| 2.1.3 Spermatocyte spreads and immunostaining | 第23-24页 |
| 2.1.4 Histopathological and immunohistochemical analysis | 第24页 |
| 2.1.5 Statistical analysis | 第24-26页 |
| 2.2 Results | 第26-36页 |
| 2.2.1 Y chromosome micro-deletions in azoospermia patients | 第26-27页 |
| 2.2.2 Meiotic studies in azoospermia patients with Y chromosomal micro-deletions | 第27页 |
| 2.2.3 Testicular histopathology | 第27-28页 |
| 2.2.4 Abnormal meiotic progression | 第28-30页 |
| 2.2.5 Homologous pairing and synapsis in AZFc+d patients | 第30-32页 |
| 2.2.6 Homologous recombination in AZF patients | 第32-34页 |
| 2.2.7 Chromosome breakage | 第34-36页 |
| 2.3 Discussion | 第36-42页 |
| 2.3.1 Abnormal meiotic progression and recombination in patients | 第36-37页 |
| 2.3.2 Abnormal homologous pairing and synapsis in patients | 第37-38页 |
| 2.3.3 Role of AZFs regions' genes in spermatogenesis | 第38-40页 |
| 2.3.4 Summary | 第40-42页 |
| Chapter 3 Mutational analysis of androgen gene in patient with complete androgen insensitivity syndrome | 第42-60页 |
| 3.1 Material and Methods | 第42-46页 |
| 3.1.1 Clinical features of the patient | 第42页 |
| 3.1.2 Blood sampling | 第42页 |
| 3.1.3 DNA isolation and sequencing | 第42-43页 |
| 3.1.4 Synaptonemal complex analysis | 第43页 |
| 3.1.5 Histological and immuneflorescent assay | 第43-44页 |
| 3.1.6 Real-time, RT-PCR | 第44页 |
| 3.1.7 Western blot analysis | 第44-46页 |
| 3.2 Results | 第46-52页 |
| 3.2.1 Ultra sound and karyotype examination of the patient | 第46页 |
| 3.2.2 Reproductive hormones in the patient | 第46页 |
| 3.2.3 Mutation in AR gene | 第46-47页 |
| 3.2.4 Meiotic progression in the patient | 第47页 |
| 3.2.5 Testicular histopathology | 第47-49页 |
| 3.2.6 Increased SOX9 expression in sertoli cells of the patient | 第49-50页 |
| 3.2.7 Sex reversal and AR pathway associated genes' expression | 第50-52页 |
| 3.3 Discussion | 第52-60页 |
| 3.3.1 AR mutations causing different disorders | 第52-53页 |
| 3.3.2 AR gene mouse models | 第53-54页 |
| 3.3.3 AR mutations causing CAIS | 第54-55页 |
| 3.3.4 AR mutations and sertoli cell only syndrome | 第55-58页 |
| 3.3.5 Summary | 第58-60页 |
| Conclusion | 第60-62页 |
| References | 第62-80页 |
| Publications | 第80-82页 |
| Acknowledgement | 第82页 |
