Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis

Akira Nakabayashi, Kou Sueoka, Hiroto Tajima, Kenji Sato, Yoshiaki Sakamoto, Shingo Katou, Yasunori Yoshimura

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)233-240
Number of pages8
JournalJournal of Assisted Reproduction and Genetics
Volume24
Issue number6
DOIs
Publication statusPublished - 2007 Jun 1

Keywords

  • A single cell
  • DMD
  • Duplication
  • Quantification
  • Real-time PCR

ASJC Scopus subject areas

  • Reproductive Medicine
  • Genetics
  • Obstetrics and Gynaecology
  • Developmental Biology
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis'. Together they form a unique fingerprint.

  • Cite this