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Y chromosome (Yq11) microdeletions in idiopathic azoospermia
T Shirakawa1, M Fujisawa, M Kanzaki
1Department of Urology, Kobe University School of Medicine, Japan.
Background:
Cytogenetic anomalies and molecular deletions of the Y chromosome in idiopathically sterile men suggest that genetic factor(s) controlling spermatogenesis are located in the distal portion of Yq11. We studied Y chromosome microdeletions in the Yq11.23 region in idiopathic azoospermia.
Methods:
We studied 25 azoospermic male patients with a cytogenetically normal 46XY karyotype; 13 exhibited Sertoli-cell-only syndrome and 12 exhibited maturation arrest. Microdeletions in the Yq11 region were examined using the PCR technique with 4 pairs of primers from DNA loci in Yq11.23.
Results:
Microdeletions in Yq11.23 were detected in 4 of the 25 azoospermic men. The most common deletion was of the Y6HP52pr sequence, which was detected in 3 of 13 men with Sertoli-cell-only syndrome but in only 1 of 12 with maturation arrest.
Conclusion:
Detection of microdeletions within the Yq11 sequence is an important clue to the genetic factor(s) underlying azoospermia.