Molecular analysis of microdeletion on AZF/DAZ gene in patients with idiopathic azoospermia and severe oligozoospermia

Objective: To identify the microdeletions of azoospermia factor (AZF) gene in the patients with idiopathic azoospermia or severe oligozoospermia.Methods:Polymerase chain reaction,with the sequence tagged sites (STS) primers sY84(AZFa),sY143 (AZFb),sY254 (AZFc) and SRY,was used to detect AZF microdeletion in 47 patients with azoospermia and 4 patients with severe oligozoospermia.Results: The microdeletions of AZF loci were found in 18 of 51 patients (35.3%),of which the deletion involved in AZFa,AZFb,AZFc,AZFa+b,AZFb+c and AZFa+b+c was 4 (7.8%),5 (9.8%),4 (7.8%),1 (1.9%),2 (3.9%) and 2 (3.9%),respectively. No deletion in SRY region was found in 51 patients. No deletion of AZFa,AZFb,AZFc/DAZ,SRY region was found in five normal males who had one or more children.Conclusion: Microdeletions on AZF/DAZ gene is a major genetic factors leading to azoospermia and severe oligozoospermia in male infertility. It is necessary to have genetic counseling and perform analysis of microdeletion on AZF/DAZ gene before intracytoplasmic sperm injection (ICSI).