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KAKEN_24791720seika.pdf
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配偶子形成過程におけるミトコンドリア関連遺伝子の網羅的探索と生殖補助医療への応用
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ハイグウシ ケイセイ カテイ ニ オケル ミトコンドリア カンレン イデンシ ノ モウラテキ タンサク ト セイショク ホジョ イリョウ エノ オウヨウ
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Haigushi keisei katei ni okeru mitokondoria kanren idenshi no morateki tansaku to seishoku hojo iryo eno oyo
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Comprehensive analysis of mitochondria-related genes during gametogenesis and it's application to reproductive medicine
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佐藤, 卓
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サトウ, スグル
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Sato, Suguru
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慶應義塾大学・医学部・助教
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Research team head
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科研費研究者番号 : 40383898
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2014
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科学研究費補助金研究成果報告書
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2013
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本研究機関では, 以下の進展が得られた. (1)ミトコンドリアのヘテロプラズミー定量解析のために, whole genome amplification (WGA)-PCR-RFLP-Image Jを用いて, 簡便・迅速かつ安価な診断系を構築した. (2)単一細胞におけるWGA-aCGHによるに染色体異数性解析の結果, 着床前診断の際に発生した生検胚中63%に染色体数的異常が検出される結果を得た. (3)WGAの増幅効率の検討の結果, 変異と連鎖する複数の遺伝子多型を同時解析し, 胚がそれぞれの片親から引き継ぐ遺伝子型の組み合わせ診断(着床前ハプロタイピング)を可能とする効果をもたらした.
We have obtained the following findings during the research period: (1)For detection of heteroplasmy for mtDNA mutations associated with the diseases, quick, simple and cheap diagnostic system using whole genome amplification (WGA)-PCR-RFLP-Image J simple was established. (2)As a result of chromosome aneuploidy analysis on single cell, 63% of the embryo which developed in the case of preimplantation diagnosis were revealed aneuploid. (3)As a effect of examination of the amplification efficiency of WGA, multi-locus simoultananeous analysis of targeted gene and STR markers closely linked to the gene enabled preimplantation genetic haplotyping.
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研究種目 : 若手研究(B)
研究期間 : 2012~2013
課題番号 : 24791720
研究分野 : 医歯薬学
科研費の分科・細目 : 外科系臨床医学・産婦人科学
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