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PubMed2006

Reevaluation of azoospermic factor c microdeletions using sequence-tagged site markers with confirmed physical positions from the GenBank database.

OBJECTIVE: To investigate microdeletions and palindrome complexes in the azoospermic factor (AZF) c regions of the Y chromosome, by polymerase chain reaction (PCR) with sequence-tagged site (STS) markers with known physical positions, after verification of the exact physical locations of candidate STSs and exclusion of those that would give ambiguous results on PCR. DESIGN: Retrospective STS deletion study in infertile Japanese men. SETTING: University hospital and reproductive clinic. PATIENT(S): A total of 410 men with nonobstructive azoospermia and severe oligospermia (sperm concentrations of <5 x 10(6)/mL). INTERVENTION(S): Polymerase chain reaction was performed for all STS markers confirmed to be physically located in the partial AZFb and AZFc regions of the Y chromosome. All STSs were retrieved from the University of California at Santa Cruz database, and their location and specificity were verified. MAIN OUTCOME MEASURE(S): Presence or absence of appropriately sized PCR products. RESULT(S): Sixty-nine markers were retrieved, 32 of which were not specific to the long arm of the Y chromosome (Yq). The markers retained for test use were contiguous deletions classified as P1+P2 (AZFc) or P3 proximal/P1 (AZFb+c). The prevalence of accurately mapped microdeletions was 5.1% (21 of 410) in this patient population. CONCLUSION(S): Although noncontiguous deletions were observed, considerable confusion remained until the genome sequence was finally determined because many of the STSs were either repetitive sequences or polymorphic between individuals or races.

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