title: Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku, Tokyo 160-8582, Japan. akira-na@kanagawa.saiseikai.or.jp
authors.forename: Akira
authors.initials: A
authors.lastname: Nakabayashi
authors.forename: Kou
authors.initials: K
authors.lastname: Sueoka
authors.forename: Hiroto
authors.initials: H
authors.lastname: Tajima
authors.forename: Kenji
authors.initials: K
authors.lastname: Sato
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Sakamoto
authors.forename: Shingo
authors.initials: S
authors.lastname: Katou
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Yoshimura
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X; D005188:False Negative Reactions; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D019836:Preimplantation Diagnosis / Q000379:methods*; D012107:Research Design; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods