ナカバヤシ　アキラ   NAKABAYASHI Akira   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	Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis.
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.233-40
著者・共著者	Nakabayashi Akira, Sueoka Kou, Tajima Hiroto, Sato Kenji, Sakamoto Yoshiaki, Katou Shingo, Yoshimura Yasunori
担当区分	筆頭著者
発行年月	2007/06
概要	PURPOSE:Preimplantation genetic diagnosis (PGD) has been performed for deletion and point mutation type of Duchenne muscular dystrophy (DMD). Our aim was to develop a PGD technique, not yet established, to directly detect duplication mutation instead of substitute diagnosis similar to gender determination.METHODS:Our method is based on comparative quantification using conventional duplex PCR, real-time PCR and gender determination. We evaluated this method in single lymphocytes from a duplication type of DMD patient and a normal male.RESULTS:There was a significant difference in the mean values of the ratios (the mutation locus/a normal reference): mean value +/- SE was 1.84 +/- 0.15 in the duplication patient, and 1.00 +/- 0.09 in the normal male (p < 0.001).CONCLUSION:It is suggested that our comparative quantification method could be a new option in PGD for carriers with duplication mutation who wish to have an unaffected son.
DOI	10.1007/s10815-007-9111-3
PMID	17340191