Y Chromosome Microdeletions and Partial AZFc Deletions in Infertile Men from South India
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2016, Vol 13, Issue 12
Abstract
Aim: Yq microdeletions involving the azoospermia factor (AZF) region are the second most frequent genetic cause of spermatogenic failure next to Klinefelter syndrome. These deletions occur in about 10-15 percent of men with azoospermia and severe oligozoospermia. Molecular screening for AZF deletions has become mandatory in the work-up of infertile men. Further, partial AZFc deletions categorized as gr/gr, b2/b3, b1/b3 and b2/b4 deletions have also been known to affect spermatogenesis. This study aimed to screen for both classical AZF deletions in 250 karyotypically normal infertile men from south India and partial AZFc deletions as a case-control analysis involving 108 fertile men. Methods: PCR amplification involving two multiplex reactions was carried out using primers for six STSs sY84, sY86 (AZFa), sY127, sY134 (AZFb), and sY254, sY255 (AZFc) with two internal controls (SRY, ZFY). Further, those men who showed deletions with one or both STSs sY1291 and sY1191 were subsequently tested with sY1189 and sY1192 to detect partial AZFc deletions. Results: One individual showed deletion of all the three AZF regions while two men had only AZFc deletion. Deletion of partial AZFb (sY127) was seen besides complete AZFc region in the fourth patient. The gr/gr, b2/b3 and b1/b3 deletions were detected in 24 (9.6%), one (0.4%) and nine (3.6%) infertile men in comparison with five, one and two fertile men respectively. The b2/b4 deletion was observed in a single azoospermic individual. Conclusion: Screening for AZF deletions would help in not only determining the cause for male infertility but also in its management and accurate genetic counselling.
Authors and Affiliations
Jaganathan Suganya, Smita B. Kujur, Kamala Selvaraj, Muthiah S. Suruli, Geetha Haripriya, Chandra R. Samuel
Keywords
Related Articles
- EP ID EP340798
- DOI 10.9734/BJMMR/2016/24208
- Views 82
- Downloads 0
CSOM Causing Tympanic Membrane Perforation and Impaired Hearing: Improved by Homeopathy
Chronic suppurative otitis media (CSOM) is characterized by a persistent discharge from the middle ear through a perforated tympanic membrane (TM) associated with partial hearing impairment, which is one of the most comm...
Evaluation of the Efficacy of Topical Timolol Therapy on Oral Lichen Planus: Clinical and Immunohistochemical Study
Aims: To evaluate the efficacies of Timolol topical therapy in patients with atrophic- erosive Oral Lichen Planus (OLP). Study Design: This study was conducted in outpatient clinic of Department of Oral Medicine, Oral D...
The Prevalence of Eyelid Myokymia in Medical Students
Aims: To determine the prevalence and factors associated with eyelid myokymia (EM) in students attending Medical faculty. Study Design: Cross sectional survey. Place and Duration of Study: Medical faculty University of...
Computational DIO2 rSNP Analysis, Transcriptional Factor Binding Sites and Disease
Purpose: The DIO2 gene transcribes the deiodinase type 2 enzyme that changes the thyroid prohormone, thyroxine (T4), to the biologically active triiodothyronine (T3) hormone. T3 plays a vital part in the regulation of en...
Relationship of Perceived Stress and Life Satisfaction among Medical Students: A Cross-sectional Study
Aims: To determine the relationship between stress and life satisfaction and also to correlate other factors that affect life satisfaction among medical students. Study Design: Cross-sectional study. Place and Duration o...