|
中林 章
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Associate Professor |
|
| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis. |
| Journal | Formal name：Journal of assisted reproduction and genetics Abbreviation：J Assist Reprod Genet ISSN code：10580468/10580468 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 24(6),pp.233-40 |
| Author and coauthor | Nakabayashi Akira, Sueoka Kou, Tajima Hiroto, Sato Kenji, Sakamoto Yoshiaki, Katou Shingo, Yoshimura Yasunori |
| Authorship | Lead author |
| Publication date | 2007/06 |
| Summary | 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 |