The Genetics of Male Infertility

ISBN-13: 9781617378119 / Angielski / Miękka / 2011 / 337 str.

Douglas T. Carrell

Opis

Infertility is a common and severe health problem affecting roughly 7% of the male population. It is likely that the majority of those patients have genetic abnormalities that are the cause of their infertility. In The Genetics of Male Infertility, twenty-one researchers and clinicians review the study of the genetics of male infertility, the tools available in the laboratory and clinic, the current state of knowledge, and the future of research and translation into clinical diagnostics and treatments. This volume gives special attention to the significant technological advances in the treatment of male infertility, including intracytoplasmic injection (ICSI) in conjunction with in vitro fertilization (IVF). In addition, new tools discussed include in vitro methodologies, in silico technologies, and new model organisms. Providing a review of our current understanding of genetic causes of male infertility, The Genetics of Male Infertility serves as a guide to evidence-based clinical applications, and a preview of future possibilities.

Spis treści

Genetics of Male Infertility Table of Contents Preface Douglas T. Carrell, Ph.D. Methods and Tools for the Study of the Genetics of Male Infertility 1. The Genetics of Male Infertility in the Era of Genomics: Tools for Progress Douglas T. Carrell, Ph.D. Abstract 1. Genetics and Andrology: Collaboration Between Two Fields 2. The Contribution of the Human Genome Project 3. The Identification and Evaluation of Candidate Male Infertility Genes 4. The Future of the Study of the Genetics of Male Infertility 5. Summary and Conclusions References 2. The use of cDNA libraries to demonstrate a linkage between transcription and translation in male germ cells Norman B. Hecht, Ph.D. Abstract Introduction Historical Background Differential Screening of cDNA Libraries Applications of cDNA Library Screening cDNA Screening by Computer Summary 3. Considerations When Using Array Technologies for Male Factor Assessment Adrian E Platts, David J. Dix, and Stephen A. Krawetz Abstract Introduction Platforms Experimental Considerations and Analytical Procedures Experimental Design Origins of Differences Between Platforms Platforms And Analytical Approach Platform Performance In Limited Technical Replicates Affymetrix U133+2 Platform Illumina Sentrix 6: Human Whole Genome BeadChip Platform Comparing Oligonucleotide Platforms Data Concordance With A Reference Technology Summary and Discussion Acknowledgements Abbreviations/Technical References/ Footnotes References Table 1 Table 2 Table 3 Figure 1 Figure 2 4. Microarray Analsis of a Large Number of Single Nucleotide Polymorphisms in Individual Human Spermatozoa Honghua Li, Xiangfeng Cui, Danielle M. Greenawalt, Guohong Hu, Nyam-Osor Chimge, Sreemanta Pramanik, Minjie Luo, Hui-Yun Wang, Irina V. Tereshchenko, Marco A. Azaro, Yong Lin, Qifeng Yang, James Y. Li, Yi Chu, Zhenwu Lin, Richeng Gao, Li Shen, Christina J. DeCoste, and Weichung J. Shih Abstract Introduction Efforts in the Detection of Genetic Markers in Individual Sperm Development of a High-Throughput Genotyping System With High Sensitivity/Detection of >1,000 SNPs in Individual Sperm Cells Applications of High-Throughput enetic Analysis of Individual Sperm Determination of the Physical Structure of Chromosomal Regions with Highly Repetitive Sequences on Single Chromosomes. Understanding the Contribution of Meiotic Recombination to Haplotype Structure Formation. Summary Acknowledgement References Table 1 Figure 1 Figure 2 Figure 3 Figure 4 5. Physiological and Proteomic Approaches to Understand Human Sperm Function: Pre Fertilization Events Christopher L.R. Barrett, Ph.D. 6. Genetics of Idiopathic Male Infertility: The Power of a Cross-Species Approach Angshumoy Roy, M.B.B.S., Yi-Nan Lin, and Martin M. Matzuk, M.D., Ph.D. Abstract Introduction Genetics of Male Idiopathic Infertility: A Candidate-Gene Approach Mutations in Infertile Male Patients: Lessons from Selected Mouse Models. Identification of new candidates conserved across different vertebrate lineages using testis-specific EST library searches Conclusions Summary Acknowledgements References Table 1 Meiosis and Errors of Meiosis 7. The Immunocytogenetics of Human Male Meiosis: A Progress Report Daniel Topping, M.D., Petrice Brown, Terry Hassold, Ph.D. Abstract 1. Introduction 2. What Immunocytogenetics Has Taught Us About Male Meiosis 2.1 Synaptonemal Complex Proteins: 2.2 Recombination Proteins 3. Immunocytogenetics and the Etiology of Male Infertility 4. Summary 5. Acknowledgements Figure 1