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Published on: May 7, 2020
Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification
Zi Ren1, Canquan Zhou, Yanwen Xu
1Center for Reproductive Medicine, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, Guangzhou, 510080, People's Republic of China.
Molecular Human Reproduction
|April 19, 2007
Summary
This study presents a reliable method for genetic testing in preimplantation genetic diagnosis (PGD) for Duchenne muscular dystrophy (DMD). The approach enhances PGD for female carriers, reducing misdiagnosis risks in embryo selection.
Area of Science:
- Genetics
- Molecular Biology
- Reproductive Medicine
Background:
- Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder.
- Limited DNA from single cells hinders comprehensive genetic testing for DMD during preimplantation genetic diagnosis (PGD).
Purpose of the Study:
- To develop a generic approach for mutation and haplotype analysis on single-cell Multiple Displacement Amplification (MDA) products for DMD PGD.
- To widen the availability of PGD for female carriers of DMD with diverse mutations.
Main Methods:
- Utilized Multiple Displacement Amplification (MDA) for whole-genome amplification from single lymphocytes and blastomeres.
- Developed mutation and haplotype analysis, including gender determination, on MDA products.
- Incorporated assays for six common mutant exons, eight short tandem repeat (STR) markers within the dystrophin gene, and amelogenin.
Main Results:
- MDA amplification showed high success rates (98.5% for lymphocytes, 94.2% for blastomeres).
- Mean allele dropout rates were 9.0% for lymphocytes and 25.5% for blastomeres.
- Genotyping of three families provided informative alleles for dystrophin haplotype analysis.
Conclusions:
- The developed approach is reliable for identifying non-carrier female embryos and unaffected male embryos.
- This method can significantly reduce the risk of misdiagnosis in PGD for Duchenne muscular dystrophy.
