Copy number variation associated with meiotic arrest in idiopathic male infertility

Abstract

Objective: To assess the association between copy number variations (CNVs) and meiotic arrest and azoospermic men. Design: Genetic association study. Setting: University. Patient(s): Australian men: 19 with histologically confirmed meiotic arrest, 110 men with azoospermia in the absence of histologic data, and 97 fertile men (controls). Intervention(s): None. Main Outcome Measure(s): The identification of CNV by microarray and/or multiplex ligation-dependent probe amplification (MLPA), and the localization of unique CNV encoded proteins to the human testis. Result(s): Microarray identified two CNVs unique to meiosis arrest patients. One containing the MYRIP gene and a second containing LRRC4..