期刊
PRENATAL DIAGNOSIS
卷 29, 期 3, 页码 217-222出版社
WILEY
DOI: 10.1002/pd.2072
关键词
fetal DNA; maternal plasma; LDR; capillary electrophoresis
资金
- National Natural Science Foundation of China [30672249]
Background The discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive diagnosis. We have now assessed the possibility of detecting single-nucleotide differences between fetal and maternal DNA in maternal plasma by polymerase chain reaction (PCR)/ligase detection reaction((LDR)/capillary electrophoresis. Methods PCR/LDR/capillary electrophoresis was applied to detect the genotype of c.454-397T>gene (ESR1) from experimental DNA models of maternal plasma at different sensitivity levels and 13 maternal plasma samples.alpha C in estrogen receptor. Results (1) Our results demonstrated that the technique could discriminate low abundance single-nucleotide mutation with a mutant/normal allele ratio up to 1 : 10 000. (2) Examination of ESR1 c.454-397T>C genotypes by using the method of restriction fragment length analysis was performed in 25 pregnant women, of whom 13 pregnant women had homozygous genotypes. The c.454-397T>C genotypes of paternally inherited fetal DNA in maternal plasma of these 13 women were detected by PCR/LDR/capillary electrophoresis, which were accordant with the results of umbilical cord blood. Conclusions PCR/LDR/capillary electrophores is has very high sensitivity to distinguish low abundance single nucleotide differences and can discriminate point mutations and sin le-nucleotide polymorphisms(SNPS) of 9 paternally inherited fetal DNA in maternal plasma. Copyright (C) 2009 John Wiley & Sons, Ltd.
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