Abstract
We analyzed 34 azoospermic (AZ), 43 oligospermic (OS), and 40 infertile males with normal spermiogram (INS) together with 55 normal fertile males (NFM) from the Indian population. AZ showed more microdeletions in the AZFa and AZFb regions whereas oligospermic ones showed more microdeletions in the AZFc region. Frequency of the AZF partial deletions was higher in males with spermatogenic impairments than in INS. Significantly, SRY, DAZ and BPY2 genes showed copy number variation across different categories of the patients and much reduced copies of the DYZ1 repeat arrays compared to that in normal fertile males. Likewise, INS showed microdeletions, sequence and copy number variation of several Y linked genes and loci. In the context of infertility, STS deletions and copy number variations both were statistically significant (p = 0.001). Thus, semen samples used during in vitro fertilization (IVF) and assisted reproductive technology (ART) must be assessed for the microdeletions of AZFa, b and c regions in addition to the affected genes reported herein. Present study is envisaged to be useful for DNA based diagnosis of different categories of the infertile males lending support to genetic counseling to the couples aspiring to avail assisted reproductive technologies.
Highlights
Human male infertility is caused owing to various factors including genes located on the Y chromosome[1]
We hypothesize that the infertile males belonging to different categories would show differences in the frequency and pattern of deletion compared to the normal fertile ones used as control
It is still not clear as to how many genes/loci are involved in causing reduced level of sperm production or total fertility failure amongst different categories of infertile males
Summary
Human male infertility is caused owing to various factors including genes located on the Y chromosome[1]. In spite of having normal spermiogram, a significant proportion of the males remain infertile. Some of the known causes of infertility include testicular pathologies, systemic diseases, endocrinological disorders and obstruction or absence of seminal pathways. Despite these known causes, infertility in about 50% males cannot be explained and such condition is termed as idiopathic infertility[7]. Azoospermic factors, SRY gene and DYZ1 arrays are reported to be affected in the blood DNA samples of infertile males having normal spermiogram[15]. We analyzed germ line (sperm) DNA samples from OS and infertile males with normal spermiogram (INS) and semen samples from AZ males to gain an insight into the most frequently affected Y linked genes and loci
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