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        <identifier>oai:kanazawa-u.repo.nii.ac.jp:00045227</identifier>
        <datestamp>2024-07-01T05:38:09Z</datestamp>
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          <dc:title>精巣体積低下を伴う無精子症の原因の解明: X染色体遺伝子の網羅的解析</dc:title>
          <dc:title xml:lang="en">Genetic cause of azoospermia with small testes: Comprehensive analysis of the X chromosome</dc:title>
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            <jpcoar:creatorName>飯島, 将司</jpcoar:creatorName>
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          <datacite:description descriptionType="Abstract">精巣体積5ml以下の無精子症患者12例の末梢血リンパ球由来のDNAを用いて、マイクロアレイでX染色体の網羅的解析を行った。4 x180Kのマイクロアレイで全染色体をカバーしつつ、X染色体にプローブ間距離が661bpになるように高密度にプローブを設定した。計36個のコード遺伝子を含む領域でコピー数の優位な増加、減少を認めた（増加33個、減少3個）。2症例以上で共通してコピー数の増減を認めた領域を10認め、その領域内に14のコード遺伝子が含まれていた。これらの遺伝子は精巣の発育および精子形成の候補遺伝子の可能性があることが示唆された。</datacite:description>
          <datacite:description descriptionType="Abstract">A comprehensive microarray analysis of the X chromosome was carried out using DNA derived from peripheral blood lymphocytes of 12 azoospermia patients with testicular volume of 5 ml or less. While covering all chromosomes with a 4 x 180 K microarray, the probes were designed at high density so that the distance between the probes was 661 bp on the X chromosome. We found significant copy number variant in the region containing 35 coding genes (33 increase, 3 decrease). There were 10 regions including 14 coding genes that showed copy number variant in common in more than two cases. It was suggested that these genes may be candidate genes for testicular growth and spermatogenesis.</datacite:description>
          <datacite:description descriptionType="Other">研究課題/領域番号:15K20077, 研究期間(年度):2015-04-01 - 2017-03-31</datacite:description>
          <datacite:description descriptionType="Other">出典：「精巣体積低下を伴う無精子症の原因の解明: X染色体遺伝子の網羅的解析」研究成果報告書　課題番号15K20077
（KAKEN：科学研究費助成事業データベース（国立情報学研究所））
（https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K20077/15K20077seika/）を加工して作成</datacite:description>
          <datacite:description descriptionType="Other">金沢大学附属病院泌尿器科</datacite:description>
          <datacite:date dateType="Issued">2017-06-12</datacite:date>
          <dc:language>jpn</dc:language>
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          <jpcoar:identifier identifierType="DOI">https://doi.org/10.24517/00051566</jpcoar:identifier>
          <jpcoar:identifier identifierType="HDL">http://hdl.handle.net/2297/00051566</jpcoar:identifier>
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            <jpcoar:relatedTitle>https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K20077/</jpcoar:relatedTitle>
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            <jpcoar:relatedTitle>https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K20077/15K20077seika/</jpcoar:relatedTitle>
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          <jpcoar:sourceTitle>平成28(2016)年度 科学研究費補助金 若手研究(B) 研究成果報告書</jpcoar:sourceTitle>
          <jpcoar:sourceTitle xml:lang="en">2016 Fiscal Year Final Research Report</jpcoar:sourceTitle>
          <jpcoar:volume>2015-04-01 - 2017-03-31</jpcoar:volume>
          <jpcoar:pageStart>4p.</jpcoar:pageStart>
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            <datacite:date dateType="Available">2018-07-09</datacite:date>
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