title: The genetics of male fertility--from basic science to clinical evaluation.
abstract: Our understanding of male fertility has increased dramatically over the  past several decades, in large part because of advances in technology and the  ability to rapidly analyze large quantities of high-resolution genetic data.  These research efforts have led to an understanding of some of the genes  involved in male fertility and have enabled us to test for defects in these  genes that result in infertility in men. However, our understanding of male  fertility remains far from comprehensive, and many genes involved in male  fertility likely remain to be identified and their mechanisms of action  elucidated. This can only be accomplished through continued, persistent  investigations using cutting-edge technologies. In this review, we discuss the  history of genetic testing and how it applies to male fertility, from the  identification of the sex chromosomes at the turn of the century to  classification of single-nucleotide polymorphisms that may result in  infertility and are the crux of modern genetic analysis. We discuss the  genetic testing methodologies traditionally used for genetic assessment of  infertile males, including karyotype analysis, sperm fluorescence in situ  hybridization, and polymerase chain reaction-based testing for Y  chromosomal evaluation, as well as cutting-edge genetic testing methodologies  using microarrays and whole-genome sequencing, permitting analysis at a  nucleotide-level resolution. Finally, we describe our vision of the future of  genetic testing in the setting of male infertility, culminating in truly  personalized medicine for each affected infertile male.
authors.affiliation: Scott Department of Urology, Baylor College of Medicine, 1 Baylor Plaza, Alkek N730, Houston, Texas 77030, USA. dlamb@bcm.edu
authors.forename: Alexander W
authors.initials: AW
authors.lastname: Pastuszak
authors.forename: Dolores J
authors.initials: DJ
authors.lastname: Lamb
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005298:Fertility / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010334:Paternity; D012150:Polymorphism, Restriction Fragment Length; D013094:Spermatozoa