Normal fertility with deletion of sY84 and sY86 in AZFa region.

Abstract

Entire deletion of the azoospermia factor a (AZFa) region commonly results in non-obstructive-azoospermia (NOA). Although sY84 and sY86 are recommended as the first choice of sequence-tagged sites (STSs) primers in AZFa region, and their deletions suggest a very high probability of complete deletion of AZFa, extension analysis is now compulsory to identify the deletion pattern. We aim to verify that extension analysis is relevant in assessing the deletion pattern of AZF by reporting a family in which two normal fertile men were confirmed to have a deletion of sY84 and sY86. According to the EAA/EMQN recommendation, AZF evaluation was detected by multiplex polymerase chain reaction (PCR) with six STSs, and extension analysis was performed to identify the deletion pattern due to the deletions of sY84 and sY86. And the further exploration was conducted to map the breakpoints of deleted DNA fragment. Deletion of sY84 and sY86 was found in the case with coinstantaneous normal semen analysis. An identically partial deletion pattern of AZFa region with the absence of an hg38Y fragment (12470437~12690385, 219949bp in total) was found in both the case and his father, which includes three pseudogenes and one non-coding-RNA gene. The extension analysis has permitted the diagnosis of a partial AZFa deletion and confirmed the importance of the extension analysis in order to provide a more accurate prediction for the testis phenotype.