@article{oai:kanazawa-u.repo.nii.ac.jp:00014080,
 author = {高, 栄哲 and 飯島, 将司 and 並木, 幹夫},
 issue = {4},
 journal = {Journal of mammalian ova research = 日本卵子学会誌},
 month = {Dec},
 note = {無精子症は精子形成に関与する多種多様な遺伝子群の異常で惹起されるが，精子形成責任遺伝子は未だ同定されていない．近年，遺伝子変異動物の作成による精子形成障害を示す例が少なからず報告され，精子形成に関与する遺伝子が多岐にわたることが明らかにされている．本稿では，遺伝子の視点から，減数分裂を特徴とする精子形成過程に深く関与する遺伝子群を概説し，無精子症を呈している疾患群から，その原因遺伝子について鳥瞰する．Y染色体長腕上にはAZF（Azoospermia factor）と呼ばれる精子形成領域が存在する．この領域の構造的特殊性を概観し，染色体内再組換えによる欠失機構を解説する．さらに，われわれが開発した日本人により適したY染色体微小欠失検出キットの開発のコンセプトとその使用法について概説する． Azoospermia is caused by abnormality in the various genes involved in spermatogenesis. However, the crucial genes for spermatogenesis have not yet been identified. Recently, targeted knockout and transgenic mice have been generated and considerable knowledge has been accumulated about their phenotype patterns, and a wide variety of genes are known to be associated with sperm formation. First, we review the meiotic and post-meiotic phases and genes expressed during spermatogenesis. Many genes corresponding to various clinical features of azoospermia exist, and we also review azoospermia related genes from clinical aspects. The AZF (azoospermia factor) regions on the Y chromosome long arm are thought to show a major correlation with spermatogenesis. From the genomic point of view, their deletion due to intrachromosomal recombimation is reviewed as a constitutional feature of the Y chromosome. Moreover, we explain how to use a detection kit for the Y chromosome micro deletion which we developed.},
 pages = {135--144},
 title = {無精子症関連遺伝子とY染色体微小欠失検出キット},
 volume = {30},
 year = {2013}
}