講演情報
[O1-3]日本人Y染色体の生殖細胞系列構造多型および体細胞性数的異常の同定
○荻原 康子1,2, 鈴木 江莉奈1, 宮戸 真美1, 黒木 陽子3, 尾崎 浩一4, 新飯田 俊平5, 深見 真紀1 (1.国立成育医療研究センター研究所 分子内分泌研究部, 2.東北大学大学院医学系研究科 次世代小児医療講座, 3.国立成育医療研究センター研究所 ゲノム医療研究部, 4.国立長寿医療研究センター研究所 メディカルゲノムセンター, 5.国立長寿医療研究センター研究所 研究推進基盤センター)
【Introduction】The human Y chromosomes frequently acquire structural and numerical variations. These variations include azoospermia factor (AZF)-linked copy-number variations (CNVs) and mosaic loss of the Y chromosome (mLOY). 【Purpose】This study aimed to characterize Y chromosomal variations in Japanese men and to examine the possible association between AZF-linked CNVs and mLOY.【Participants and Methods】Genomic DNAs were obtained from 160 Japanese men aged 75-90 years and subjected to multiplex ligation-dependent probe amplification (MLPA). The levels of mLOY were examined by droplet digital PCR (ddPCR).【Results】MLPA identified ten types of AZF-linked CNVs in 77 men and mLOY of various degrees in 37. Seventeen men carried both a CNV and mLOY. MLOY levels estimated by MLPA were closely correlated with those determined by ddPCR. No association was found between AZF-linked CNVs and the frequency or levels of mLOY.【Discussion】Ten types of AZF-linked CNVs and mLOY of various degrees were identified in 48% and 23% of the participants, respectively. The results demonstrate the high frequency and significant heterogeneity of Y chromosomal variations in Japanese men. Since mLOY levels were comparable between the CNV-positive and negative participants, it appears that most AZF-linked CNVs do not promote aging-related mLOY.【Conclusion】This study emphasizes a high frequency and large inter-individual variability of AZF-linked CNVs and mLOY in Japanese men. Our data imply that AZF-linked CNVs do not constitute the risk factor of aging-related mLOY.