Objective: To test the diagnostic efficiency of a gene-specific, five-marker screening strategy for the detection of Y chromosome deletions.
Design: Prospective case study.
Setting: University genetics laboratory and reproductive clinics.
Patient(s): Six hundred twenty-seven infertile men and 212 fertile men.
Intervention(s): Peripheral blood samples were screened for Y chromosome deletions in a triple-blind fashion using three protocols: protocol I consisted of five gene-specific markers, including USP9Y, DBY, SMCY, RBM1, and DAZ; protocol II included 14 gene-specific markers; and protocol III consisted of six sequence-tagged sites (STSs) markers recommended by EAA/EMQN.
Main outcome measure(s): Deletion status of Y chromosome genes or sequence-tagged sites.
Result(s): Protocols I and II identified the same 41 infertile patients with Y deletions. Protocol III identified 38 infertile patients with Y deletions, and all 38 patients were also identified by protocols I and II. One patient with isolated USP9Y deletion and two patients with isolated DBY deletions, as detected by protocols I and II, could not be identified by protocol III.
Conclusion(s): We observed mostly consistent results between our protocols and the EAA/EMQN protocol. This gene-specific, five-marker screening panel provides the same diagnostic efficiency as the EAA/EMQN protocol and may be considered an alternative to the EAA/EMQN protocol.