講演情報
[P22-2]Y染色体gr/gr微小欠失は精子形成を完全に失った日本人患者に多く認める。
○村西 雄貴1, 福井 由宇子1, 玉岡 哲1, 服部 淳1, 植田 亜季1, 鈴木 江莉奈1, 松原 圭子1, 黒木 陽子2, 宮戸 真美1, 岩端 威之3, 小堀 善友3, 深見 真紀1 (1.国立成育医療研究センター 分子内分泌研究部, 2.国立成育医療研究センター ゲノム医療研究部, 3.獨協医科大学埼玉医療センター リプロダクションセンター)
[Introduction] Previously, we and other researchers showed that copy-number variations in the azoospermia factor region on the Y chromosome (AZF) constitute risk factors of non-obstructive azo/oligozoospermia. However, the clinical significance of AZF-linked microduplications in spermatogenic failure remains to be clarified.[Subjects and methods] The patient group consisted of 69 Japanese men clinically diagnosed with idiopathic non-obstructive azoospermia. These patients were confirmed to have complete spermatogenic failure by testicular sperm extraction. The control group consisted of 41 Japanese fertile men. Prior to this study, individuals with AZF-linked deletions detected by conventional sequence-tagged site PCR analyses were excluded. AZF-linked microduplications were analyzed using multiplex ligation-dependent probe amplification. The results of the patient group were compared to those of our previous study on azo/oligozoospermia patients (Saito et al, J Hum Genet, 2015). [Results and Discussion] In the patient group, gr/gr duplication was shared by 11 patients, while no other microduplications were detected. The frequency of gr/gr duplication was significantly higher in the patient group than in the control group (11/69 vs 0/41, p = 0.007 ). The percentage of gr/gr duplication-positive patients were higher in the present study than in our previous study, albeit not statistically significant (15.9% vs 10.7%, p = 0.51). These results indicate that gr/gr duplications are common in Japanese patients with spermatogenic failure, particularly in severe cases.