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.


METHODS
Retrospective STS deletion study in infertile Japanese men.


METHODS
University hospital and reproductive clinic.


METHODS
A total of 410 men with nonobstructive azoospermia and severe oligospermia (sperm concentrations of <5 x 10(6)/mL).


METHODS
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.


METHODS
Presence or absence of appropriately sized PCR products.


RESULTS
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.


CONCLUSIONS
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.
Department of Integrated Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Masato
M
Fukushima
Eitetsu
E
Koh
Jin
J
Choi
Yuji
Y
Maeda
Mikio
M
Namiki
Atsumi
A
Yoshida
D000818:Animals; D041322:Chromosomes, Human, Y / Q000235:genetics*; D030561:Databases, Nucleic Acid; D017353:Gene Deletion; D056426:Genetic Loci; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D051379:Mice; D009845:Oligospermia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020161:Physical Chromosome Mapping / Q000379:methods; D012189:Retrospective Studies; D029589:Seminal Plasma Proteins / Q000235:genetics*; D016324:Sequence Tagged Sites
D005819:Genetic Markers; D029589:Seminal Plasma Proteins