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Y Chromosome (Yq11) Microdeletions in Idiopathic Azoospermia
Author(s) -
Shirakawa Toshiro,
Fujisawa Masato,
Kanzaki Masanori,
Okada Hiroshi,
Arakawa Soichi,
Kamidono Sadao
Publication year - 1997
Publication title -
international journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.172
H-Index - 67
eISSN - 1442-2042
pISSN - 0919-8172
DOI - 10.1111/j.1442-2042.1997.tb00170.x
Subject(s) - azoospermia , y chromosome microdeletion , y chromosome , medicine , karyotype , spermatogenesis , chromosome , sertoli cell , andrology , biology , genetics , gene , infertility , pregnancy
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; 1 3 exhibited Sertoli‐cell‐only syndrome and 12 exhibited maturation arrest. Microdeletions in the Yql 1 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.