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[Non-invasive prenatal diagnosis of Duchenne muscular dystrophy]
1Department of Medical Genetics, China Medical University, Shenyang, Liaoning 110001 P. R. China. klsun@mail.cmu.edu.cn
Objective:
This paper was designed to investigate the feasibility of non-invasive prenatal diagnosis of Duchenne muscular dystrophy(DMD).
Methods:
The nucleated red blood cells(NRBC) were separated with percoll using a discontinuous density gradient method. The cells were smeared on microscope slides using a cyto-centrifuge and then stained by Wright- Giemsa. NRBCs were detected and individually retrieved into glass capillary pipettes using a micromanipulator under microscopic observation. The whole genome of a single cell was amplified by improved primer extension preamplification(PEP). The procedures for making prenatal diagnosis of DMD and determining the origin of NRBCs proceeded at the same time using sex determination and linkage analysis of several STR loci of dystrophin. Genotypes were analyzed by amplifying the 9 STR fragments using fluorescence-PCR technique and NRBCs origin was further determined.
Results:
A case of DMD in male fetus was diagnosed.
Conclusion:
With the use of the method reported, the non-invasive prenatal diagnosis of DMD is possible.