学位专题

封面
声明
Acknowledgments
Table of content
List of abbreviations
摘要
Abstract
1 Introduction
1．1 Male reproductive system
1．2 Spermatogenesis
1．3 Structure of sperm
1．4 Male infertility
1．4．1 Prevalence
1．4．2 Etiology of male infertility
1．5 Genetic causes of idiopathic male infertility
1．5．1 Genetic causes of idiopathic azoospermia
1．5．2 Genetic causes of idiopathic astheno-terato spermia
1．6 Mutations in DNAH1 gene cause MMAF
1．7 In vivo study of testis-enriched mouse genes’ functions
1．8 Some of the testis-enriched genes dispensable for male fertility
1．9 Aims and objectives
2 A novel DNAH1 mutation causes multiple morphological anomalies of the sperm flagella(MMAF)in a Pakistani family
2．1 Materials and methods
2．1．1 Family recruitment
2．1．2 Samples collection
2．1．3 Papanicolaou staining
2．1．4 DNA extraction
2．1．5 Whole exome sequencing
2．1．6 Gene filtration
2．2 Results
2．2．1 Family description
2．2．2 Clinical features
2．2．3 Hormone analysis
2．2．4 Semen analysis
2．2．5 Multiple morphological anomalies of sperm flagella(MMAF)
2．2．6 DNAH1 mutation identified in patients
2．2．7 Pathogenic variants confirmation
2．2．8 Effect of identified mutation
2．3 Discussion
2．4 Conclusion
3 The evolutionarily conserved and testis-enriched genes：Tex37,Ccdc73 and Prss55 are dispensable for fertility in mice
3．1 Materials and methods
3．1．2 Generation of KO mice
3．1．3Fertility test
3．1．4 Hematoxylin and eosin(H&E)staining
3．1．5 Sperm counting
3．1．6 Western blot
3．2 Results
3．2．1 Identification of the testis-enriched genes
3．2．2 Conservation of selected genes in eutherians
3．2．3 Generation of KO mice
3．2．4 Normal fertility and spermatogenesis of the KO mice
3．3 Discussion
3．4 Conclusion
References
List of publications