Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.
OBJECTIVE
To evaluate the use of multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD) for female carriers with Duchenne muscular dystrophy (DMD).


METHODS
MDA was used to amplify a whole genome of single cells. Following the setup on single cells, the test was applied in two clinical cases of PGD. One mutant exon, six short tandem repeats (STR) markers within the dystrophin gene, and amelogenin were incorporated into singleplex polymerase chain reaction (PCR) assays on MDA products of single blastomeres.


METHODS
Center for reproductive medicine in First Affiliated Hospital, Sun Yat-sen University, China.


METHODS
Two female carriers with a duplication of exons 3-11 and a deletion of exons 47-50, respectively.


METHODS
The MDA of single cells and fluorescent PCR assays for PGD.


METHODS
The ability to analyze single blastomeres for DMD using MDA.


RESULTS
The protocol setup previously allowed for the accurate diagnosis of each embryo. Two clinical cases resulted in a healthy girl, which was the first successful clinical application of MDA in PGD for DMD.


CONCLUSIONS
We suggest that this protocol is reliable to increase the accuracy of the PGD for DMD.
Ren
Zi
Z
Department of Obstetrics and Gynecology, Guangdong Provincial People's Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Zeng
Hai-tao
HT
Xu
Yan-wen
YW
Zhuang
Guang-lun
GL
Deng
Jie
J
Zhang
Cheng
C
Zhou
Can-quan
CQ
D000328:Adult; D053523:Amelogenin / Q000235:genetics*; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D050498:Live Birth; D008297:Male; D018895:Microsatellite Repeats; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D015203:Reproducibility of Results
D053523:Amelogenin; D016189:Dystrophin