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 language | English |
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Pages (from-to) | 233-240 |
Number of pages | 8 |
Journal | Journal of Assisted Reproduction and Genetics |
Volume | 24 |
Issue number | 6 |
DOIs | |
Publication status | Published - 2007 Jun |
Keywords
- A single cell
- DMD
- Duplication
- Quantification
- Real-time PCR
ASJC Scopus subject areas
- Reproductive Medicine
- Genetics
- Obstetrics and Gynaecology
- Developmental Biology
- Genetics(clinical)