Open AccessUseful marker for the estimation of a recombination pair in the partial azoospermia factor c (gr/gr) deletion using quantitative real‐time polymerase chain reaction
Author(s) -
SUZUKI HIROMI,
MATSUI FUTOSHI,
KOH EITETSU,
FUKUSHIMA MASATO,
CHOI JIN,
MAEDA YUJI,
NAMIKI MIKIO,
YOSHIDA ATSUMI
Publication year - 2007
Publication title -
reproductive medicine and biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.005
H-Index - 22
eISSN - 1447-0578
pISSN - 1445-5781
DOI - 10.1111/j.1447-0578.2007.00171.x
Subject(s) - azoospermia , azoospermia factor , polymerase chain reaction , infertility , male infertility , genetics , homologous recombination , biology , andrology , microbiology and biotechnology , medicine , gene , pregnancy
Background and aims: Azoospermia factor c (AZFc) microdeletions are associated with male infertility and are caused by intrachromosal recombination between homologous repetitive sequence segments. Partial AZFc deletion (gr/gr) has been reported in male factor infertility. In the present study, we established detecting the copy number using quantitative real‐time polymerase chain reaction (qRT‐PCR) with the genome DNA, and assessed the association of the recombination pair set of gr/gr deletion and deleted in azoospermia copies. Furthermore, we determined the clinical significance of differential recombination patterns of gr/gr deletion, and compared them with azoospermia and proven fertile volunteers, with both groups having gr/gr deleted Japanese subjects. Materials and methods: A total of 16 Japanese subjects with idiopathic azoospermia, and 13 proven fertile men with gr/gr deletion, were studied. qRT‐PCR was used for the estimation of an identical site number. Results: The g1/g2 deletion was found in 69.2% (9/13) in proven fertile men and in 75% (12/16) of idiopathic infertile men. The gr/gr deletion could result in the recombination of g1/g2 segments. Furthermore, there was no difference in the position of deletion between azoospermic patients and controls ( P = 0.59). Conclusion: There was no association between the loss of DAZ cluster and azoospermia in gr/gr deletion. This suggests that most of the partial deletions are neutral variants.