We found partial microdeletion in the AZFa HERV region say sY1186,85 etc. I would like to know whether these HERV region deletions in AZFa region have any clinical significance on sperm count or ivf outcome.
Hi,
According to DECIPHER, deletions in AZFa region is corelaterad to Male infertility, characterised by azoospermia/severe oligospermia. Other reported deletion are about 780-800bp and AZFa contains two genes whose absence or mutation causes spermatogenic failure. So if the deletion is in the app size and contains parts of these genes then you may say that it has a clinical significance.
Hi Mr.Ravi,
This happens due to homologous recombination between proximal and distal end proviruses. It depends whether you have employed markers spanning both proximal and distal end. Whether your study subject is Azoospermic/Severe oligospermic.??? For more details you can refer to http://hmg.oxfordjournals.org/content/9/15/2291.full regarding the similar work which has been published
Hello,
Rarely is the deletion of only 1 STS indicative of infertility. It is critical to screen for the AZF region using STSs that span the genes of functional interest. Generally a true AZFa deletion is almost always associated with azoospermia. There are cases reported in which only the proximal half of the region is removed and the resulting phenotype was severe oligozoospermia. Please make sure that you have a screening panel that covers the region sufficiently. If you do have a comprehensive STS panel and find only one missing and are using a multiplex, then I would check the STS individually to be sure that you don't have PCR failure.
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