Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms.

Abstract:

BACKGROUND:Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis, particularly for the analysis of fetal genetic traits, which are absent from the maternal genome, e.g., RHD or Y-chromosome-specific sequences. To date, the analysis of other fetal genetic traits has been more problematic because of the overwhelming presence of maternal DNA sequences in the circulation. We examined whether different biochemical properties can be discerned between fetal and maternal circulatory DNA. METHODS:Plasma DNA was examined by agarose gel electrophoresis. The fractions of fetal and maternal DNA in size-fractionated fragments were assayed by real-time PCR. The determination of paternally and maternally inherited fetal genetic traits was examined by use of highly polymorphic chromosome-21-specific microsatellite markers. RESULTS:Size fractionation of circulatory DNA indicated that the major portion of cell-free fetal DNA had an approximate molecular size of <0.3 kb, whereas maternally derived sequences were, on average, considerably larger than 1 kb. Analysis of size-fractionated DNA (

journal_name

Clin Chem

journal_title

Clinical chemistry

authors

Li Y,Zimmermann B,Rusterholz C,Kang A,Holzgreve W,Hahn S

doi

10.1373/clinchem.2003.029835

subject

Has Abstract

pub_date

2004-06-01 00:00:00

pages

1002-11

issue

6

eissn

0009-9147

issn

1530-8561

pii

clinchem.2003.029835

journal_volume

50

pub_type

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