Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population
Background: Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligo...
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doaj-ffe37a8bbd7245b59b1aa91d0dc35e1f2020-11-25T01:55:58ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2014-03-0183889110.7860/JCDR/2014/7680.4116Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian PopulationPRAFULLA S. AMBULKAR0RAMJI SIGH1MVR REDDY2POONAM S. VARMA3DILIP O. GUPTA4MORESHWAR R SHENDE5ASOKE K PAL6Senior Research Fellow, Human Cytogenetics Unit, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram-442102, Wardha, (MS) India.Professor, Reproductive Biology Unit, Department of Physiology, MGIMS, Sevagram, India.Professor, Department of Biochemistry, MGIMS, Sevagram, India.Professor, Department of Obstetrics and Gynaecology, MGIMS, Sevagram, India.Professor, Department of Surgery, MGIMS, Sevagram, India.Professor, Department of Anatomy, MGIMS, Sevagram, India.Professor, Human Cytogenetics Unit, Department of Anatomy, MGIMS,Sevagram, India.Background: Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligozoospermia from central Indian population. Materials and Methods: We have analyzed a total of 156 subjects (95 oligozoospermia and 61 azoospermia) & 50 control subjects. DNA samples were analyzed for microdeletions of Y chromosome by PCR-screening of 18 sequences-tagged-site (STS) markers from different region of the AZF on Yq and SRY on Yp. Results: Out of 156 cases analyzed, 13 (8.33%) subjects (8 azoospermia and 5 oligozoospermia) showed partial deletion of AZF regions, of which deletion in AZFc region was the most common (84.6%) followed by AZFb (15.4%) and AZFa (15.4%). The sites and sizes of deletions varied among patients. Histological study of the testicular tissue of the available subjects, who showed microdeletions of Y chromosome, showed spermatogenic arrest at different stages. The frequency of Y chromosome microdeletion in our subjects was 8.33%. Conclusion: Some Indian studies reported low frequencies of microdeletions than that of our result. We suggest that the frequency of deletions may be affected by the involvement of different genetic factors, ethnic population and different geographical regions. PCR based Y chromosome screening for microdeletions will be useful and great help to infertility clinics for genetic counselling and assisted reproduction.https://jcdr.net/articles/PDF/4200/28-%207680_E(Ra)_F(P)_PF1(PAK)_E(V)_PFA(AK)_PF2(PN).pdfmale infertilityy microdeletionsazf factor |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
PRAFULLA S. AMBULKAR RAMJI SIGH MVR REDDY POONAM S. VARMA DILIP O. GUPTA MORESHWAR R SHENDE ASOKE K PAL |
spellingShingle |
PRAFULLA S. AMBULKAR RAMJI SIGH MVR REDDY POONAM S. VARMA DILIP O. GUPTA MORESHWAR R SHENDE ASOKE K PAL Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population Journal of Clinical and Diagnostic Research male infertility y microdeletions azf factor |
author_facet |
PRAFULLA S. AMBULKAR RAMJI SIGH MVR REDDY POONAM S. VARMA DILIP O. GUPTA MORESHWAR R SHENDE ASOKE K PAL |
author_sort |
PRAFULLA S. AMBULKAR |
title |
Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population |
title_short |
Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population |
title_full |
Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population |
title_fullStr |
Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population |
title_full_unstemmed |
Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population |
title_sort |
genetic risk of azoospermia factor (azf) microdeletions in idiopathic cases of azoospermia and oligozoospermia in central indian population |
publisher |
JCDR Research and Publications Private Limited |
series |
Journal of Clinical and Diagnostic Research |
issn |
2249-782X 0973-709X |
publishDate |
2014-03-01 |
description |
Background: Genetic factors cause about 15% of male infertility.
Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are
most important for spermatogenesis. We have made an attempt
to evaluate the frequencies of microdeletions of AZFa, AZFb,
AZFc in idiopathic cases of azoospermia and oligozoospermia
from central Indian population.
Materials and Methods: We have analyzed a total of 156 subjects
(95 oligozoospermia and 61 azoospermia) & 50 control subjects.
DNA samples were analyzed for microdeletions of Y chromosome
by PCR-screening of 18 sequences-tagged-site (STS) markers
from different region of the AZF on Yq and SRY on Yp.
Results: Out of 156 cases analyzed, 13 (8.33%) subjects (8
azoospermia and 5 oligozoospermia) showed partial deletion
of AZF regions, of which deletion in AZFc region was the most
common (84.6%) followed by AZFb (15.4%) and AZFa (15.4%).
The sites and sizes of deletions varied among patients. Histological
study of the testicular tissue of the available subjects, who showed
microdeletions of Y chromosome, showed spermatogenic arrest
at different stages. The frequency of Y chromosome microdeletion
in our subjects was 8.33%.
Conclusion: Some Indian studies reported low frequencies
of microdeletions than that of our result. We suggest that the
frequency of deletions may be affected by the involvement
of different genetic factors, ethnic population and different
geographical regions. PCR based Y chromosome screening for
microdeletions will be useful and great help to infertility clinics for
genetic counselling and assisted reproduction. |
topic |
male infertility y microdeletions azf factor |
url |
https://jcdr.net/articles/PDF/4200/28-%207680_E(Ra)_F(P)_PF1(PAK)_E(V)_PFA(AK)_PF2(PN).pdf |
work_keys_str_mv |
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