PRENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY BY RESTRICTION FRAGMENT LENGTH POLYMORPHISM ANALYSIS WITH pERT 87 INTRAGENOMIC DEOXYRIBONUCLEIC ACID PROBES
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概要
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DNAプローブと妊娠初期絨毛採取法の組合せによる Duchenne型筋ジストロフィー症の出生前診断を行つた. 遺伝性症例4家系, 孤発性症例4家系合計8家系を対象とした. 成人(50名)DNAは末梢血白血球, 胎児(8名)DNAは妊娠初期9週に絨毛採取法により採取した絨毛組織より常法により抽出した. 7μg DNAを制限酵素 (BstXI, TaqI, XmnI, BstNI) で切断して1%アガロースゲルで分離してサザンブロット法変法を使つてナイロンメンブレンにアルカリトランスファーした. DNAプローブは intragenic genomic プローブである pERT 87-1, 87-8, 87-15を使用してハイブリダイゼーションを行いオートラジオラムを作製した. 診断は制限断片長多型分析を利用して行つた. 出生前診断にさきだちY染色体特異的 DNAプローブを使い, Dot blot法で胎児性別診断を行つた. 8家系8胎児のうち4胎児が男性胎児, 4胎児が女性胎児であつた. 男性胎児は全例正常と診断された. 女性胎児の3例は正常 (非保因者), 残り1例は母親 (妊婦)の carrier statusが不明のため診断不能であつた. 胎児8例のうち7例 (87.5%) で出生前診断が可能であつた.
- 社団法人日本産科婦人科学会の論文
- 1991-06-01
著者
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Masaki Kazuo
First Department Of Obstetrics And Gynecology Toho University School Of Medicine
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Masaki Kazuo
東邦大学 医学部産科婦人科学第1
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Abe Y
Department Of Obstetrics And Gynecology Toho University School Of Medicine
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Kubo Harumi
Department of Obstetrics and Gynecology, TOHO University School of Medicine
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Katayama Susumu
The First Department Of Obstetrics And Gynecology School Of Medicine Toho University
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YANO Tomone
The First Department of Obstetrics and Gynecology, School of Medicine, Toho University
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TAKESHITA Naoki
The First Department of Obstetrics and Gynecology, School of Medicine, Toho University
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ABE Yuji
The First Department of Obstetrics and Gynecology, School of Medicine, Toho University
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USUI Akira
The First Department of Obstetrics and Gynecology, School of Medicine, Toho University
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KUBO Harumi
The First Department of Obstetrics and Gynecology, School of Medicine, Toho University
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MOMOSE Kazuo
The First Department of Obstetrics and Gynecology, School of Medicine, Toho University
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UBAGAI Tsuneyuki
Department of Microbiology, School of Medicine, Toho University
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Ubagai Tsuneyuki
Department Of Microbiology School Of Medicine Toho University
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Kubo Harumi
Department Of Obstetrics And Gynecology Toho University School Of Medicine
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Kubo Harumi
The First Department Of Obstetrics And Gynecology School Of Medicine Toho University
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Yano Tomone
The First Department Of Obstetrics And Gynecology School Of Medicine Toho University
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Ubagai Tsuneyuki
Department Of Microbiology And Immunology Teikyo University School Of Medicine
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Takeshita Naoki
Department Of Obstetrics And Gynecology Toho University Omori Medical Center
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Usui Akira
The First Department Of Obstetrics And Gynecology School Of Medicine Toho University
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Ubagai Tsuneyuki
Department of Microbiology & Immunology, Teikyo University School of Medicine
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KATAYAMA Susumu
The First Department of Obstetrics and Gynecology,School of Medicine,Toho University
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