Polymorphisms of the DAX1 and EGR4 Genes are Not Common Causes of Abnormal Spermatogenesis

The study of gene mutations causing sequence variation in spermatogenesis-related genes has revealed a highly stable spermatogenic code with little variability and even fewer disease-causing mutations. The current study supports the same trend, indicating that EGR4 and DAX1, two spermatogenesis-related genes, have a high genetic fidelity and do not contain polymorphic sites that would lead to a disease state. This was determined from a population of 192 men, 96 control samples from men with known paternity, acquired from the Utah Genetic Reference Project (UGRP), and 96 infertile men. The diagnosis of the infertile men was stratified amongst three diagnostic groups, non-obstructive azoospermic, severe oligozoospermic, and men with abnormal protamine expression.