[Non-invasive prenatal genetic diagnosis using multiple displacement amplification].
OBJECTIVE
To investigate the feasibility of multiple displacement amplification (MDA) to apply in the non-invasive prenatal genetic diagnosis of Duchenne muscular dystrophy (DMD).


METHODS
Maternal blood was obtained from 20 pregnant women at 7 to 25 weeks of gestation. After the discontinuous density gradient centrifugation with Percoll, the fetal nucleated red blood cells (NRBCs) were stained with Kleihauer test. All positive NRBCs were collected by micromanipulator and then performed with MDA. Sex and short tandern repeat (STR) analysis were determind from a small aliquot of the reaction. The origin of NRBCs was verified and prenatal diagnosis of DMD was made at the same time.


RESULTS
The product length of MDA was >15 kb, while primer extension preamplification (PEP) is only about 1 kb. We completed non-invasive prenatal genetic diagnosis of 6 fetus at high risk of DMD using MDA. The results were all coincident with amniotic fluid control.


CONCLUSIONS
The MDA method which provides a highly uniform representation across the genome, representing the entire genome with minimal amplification bias, shows good application prospects.
Liu
Wei-yu
WY
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 PR China.
Jin
Chun-lian
CL
Liu
Li-ying
LY
Lin
Chang-kun
CK
Wang
Yan
Y
Sun
Kai-lai
KL
D004900:Erythroblasts / Q000378:metabolism; D005240:Feasibility Studies; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*