ナカバヤシ　アキラ   中林　章    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy.
掲載誌名	正式名：Journal of assisted reproduction and genetics 略　 称：J Assist Reprod Genet ISSNコード：10580468/10580468
掲載区分	国外
巻・号・頁	24(6),pp.227-32
著者・共著者	Tajima Hiroto, Sueoka Kou, Moon Sung Yung, Nakabayashi Akira, Sakurai Tomoyoshi, Murakoshi Yukitaka, Watanabe Hiroyoshi, Iwata Soukichi, Hashiba Tsuyoshi, Kato Shingo, Goto Yu-Ichi, Yoshimura Yasunori
発行年月	2007/06
概要	PURPOSE:To perform preimplantation genetic diagnosis (PGD) of Leigh encephalopathy, we developed a rapid and reliable quantification assay for the percentage of T8993G mtDNA mutation and analyzed various specimens.METHODS:We prepared the standard curve by measuring serial proportion of 8993T/G cloned plasmid DNA using real-time PCR, and measured (1) mutant DNA (known proportions by PCR-RFLP), (2) single lymphocytes from 46% mutant carrier, (3) 123 blastomeres from 20 abnormal embryos.RESULTS:(1) These were within -5 - +6% error range, (2) mean 44.3%(11-70%), (3) Five embryos harbored T8993G mutation (4-22%). Embryos from same person indicated different degrees of heteroplasmy, and blastomeres from same embryo demonstrated limited dispersion of heteroplasmy (2-11%).CONCLUSIONS:(1) This method provides rapid and reliable PGD for Leigh encephalopathy. (2) The variable heteroplasmy with somatic mitosis was suggested. (3) T8993G mutation was existed in undeveloped embryo, and the bottleneck theory was supported. The limited heteroplasmy dispersion of blastomeres from same embryo also supported reliability of PGD for T8993G mutation.
DOI	10.1007/s10815-007-9114-0
PMID	17342424