Abstract
Objective: The pathogenic relationship between the presence of Y chromosomal microdeletions and male infertility is unclear. Nevertheless a causal relationship is thought to be probable when loci deleted in infertile males are present in fertile males. PCR analysis of the Y chromosome is now routinely performed in the evaluation of the infertile male although, until recently, there has been no consensus on how the diagnosis should be performed and which loci or markers should be analyzed. The European Academy of Andrology (EAA) published guidelines for the molecular diagnosis of Y chromosomal microdeletions in 1999. Following these guidelines, our laboratory developed assays that incorporated the suggested primer pairs for the recommended Sequence Tagged Sites (STS). The objective of this study was to assess the sensitivity and specificity of our Y chromosome microdeletion assay by testing DNA from fertile men and blinded reference samples. Our clinical assay requires follow up of any sample apparently deleted for one or more of the STS markers.
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