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Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms

DNA obtained from maternal buccal swab represent maternal germinal DNA. Tandem Single Nucleotide Polymorphism (SNP) sequences on chromosome 21 are amplified by Multiplexed Linear Amplification (MLA) followed by High-Fidelity Polymerase Chain Reaction (HiFi PCR) and Cycling Temperature Capillary Electrophoresis (CTCE) analysis. DNA obtained from maternal plasma represents a mixture of fetal and maternal DNA. Tandem SNP sequences identified as heterozygous on maternal buccal swab are amplified on maternal plasma by MLA followed by High-Fidelity PCR (HiFi PCR) and CTCE analysis. CTCE analysis is followed by Tandem SNP evaluation to check for informativeness. Results with 3 peaks are subjected to Haplotype Ratio (HR) analysis.

• Buccal swab is a simple technique used to collect cheek cells from inside your mouth.
• Haplotype is a genetic term for a combination of alleles (DNA sequences) at different places (loci) on the chromosome that are transmitted together.
• Single Nucleotide Polymorphism is a genetic term for a variation in single nucleotide in a DNA sequence differing between individuals or paired chromosomes in an individual.

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Reference

<pubmed>20949031</pubmed>| PLoS One.

Copyright: © 2010 Ghanta et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.