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The frequency of Y chromosome microdeletions in infertile men of Vellore cohort

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TLDR
There was an absence of microdeletion in patient samples for SY82 and SY83 markers of AZFa region and it was concluded that sample size should be increased to confirm the results.
Abstract
Many male infertility cases are because of genetic and environmental factors and most of them are idiopathic. About 10-20% of azoospermic patients are showing the microdeletion in Y-chromosome. The azoospermia factor or AZF region at the Yq11 position which consists of genes those are necessary for spermatogenesis. In Y chromosome microdeletion, deletion in AZFa region is very rare. The aim of our study is to find out the frequency of microdeletions in Y chromosome particularly in AZFa region in azoospermic men of Vellore cohort. For this study, we collected 10 azoospermic patient and 10 control men samples from the Sandhya hospital, Vellore. In this study, we mainly focused on AZFa region to analyze the frequency of microdeletions in Y chromosome using SY82 (264bp) and SY83 (275bp) STS markers. There was an absence of microdeletion in patient samples for SY82 and SY83 markers of AZFa region. We concluded that sample size should be increased to confirm our results.

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References
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Journal ArticleDOI

Trends of male factor infertility, an important cause of infertility: A review of literature.

TL;DR: The present literature will help in knowing the trends of male factor infertility in developing nations like India and to find out in future, various factors that may be responsible for male infertility.
Journal ArticleDOI

Y chromosome microdeletions and alterations of spermatogenesis.

TL;DR: A clear correlation exists between the size and localization of the deletions and the testicular phenotype, however, it is clear that larger deletions are associated with the most severe testicular damage.
Journal ArticleDOI

Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.

TL;DR: The discovery of breakpoint hotspots suggest that factors in addition to homology underlie these deletions, which are the largest of all human interstitial deletions for which deletion junctions and complete intervening sequence are available.
Journal ArticleDOI

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

TL;DR: It is assumed that intrachromosomal recombination events between the two homologous retroviral sequence blocks in proximal Yq11 are probably the causative agents for most of the AZFa microdeletions observed in men with SCO syndrome.
Journal ArticleDOI

Genetic causes of spermatogenic failure

TL;DR: The recent evolution in the development of whole-genome-based techniques and the large-scale analysis of mouse models might help in this process of finding out the underlying causes of male infertility.
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