Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men
Published: September 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.6515
Prafulla Ambulkar, Ajay Chuadhary, Jwalant Waghmare, Aaditya Tarnekar, Asoke Pal
1. Senior Research Fellow, Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, (Ms), India.
2. Professor and Head, Reproductive Biology Unit, Department of Physiology, MGIMS, Sevagram, Wardha (MS), India.
3. Professor, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram Wardha, (MS), India.
4. Professor, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, (MS), India.
5. Professor, Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, (Ms), India.
Correspondence
Dr. Asoke Pal,
Professor, Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences,
Sevagram, Wardha-442012, (Ms), India.
E-mail : asokepal@yahoo.com
Background: Genetic factor is important determinant of human male fertility, it is involved in 10-15% infertile males. Chromosome abnormalities and Y chromosome microdeletions are the main genetic causative factors for infertility. The frequency of male infertility & microdeletions in Y chromosome are also related to ethnic, geographical variations. In this study, we evaluated the prevalence of chromosomal abnormalities and microdeletions of Y chromosome in infertile azoospermia cases in central India to assess the geographical or population based variations.
Materials and Methods: We have studied 160 non-obstructive azoospermia cases to find out frequency of chromosomal abnormalities and Y chromosome microdeletions of AZF locus. G-banding method was used for exclusion of chromosomal abnormalities. One hundred and forty eight azoospermic infertile men were screened using 12 sequence-tagged-sites (STS) primers of AZFa, AZFb, AZFc region and SRY gene (Yp) region by polymerase chain reactions.
Results: Out of 160 azoospermic infertile males, 12 (7.5%) confirmed chromosomal abnormalities and Klinefelter’s syndrome was predominantly cause of azoospermia. Of the 148 infertile males, 19 (12.8%) were shown microdeletions in different AZF regions. Deletions in AZFa region were 2.02% and 3.37% was in AZFb whereas high frequencies of deletions (6.08%) in AZFc were recorded in azoospermic males. In two azoospermic males were shown microdeletions in AZFb+c loci.
Conclusion: The prevalence of Y chromosome microdeletions in azoospermic men was 12.8% in this geographical region. Klinefelter’s syndrome is important cause in male infertility. So, the screening of Y microdeletions is essential.
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