Details
| Original language | English |
|---|---|
| Pages (from-to) | 537-546 |
| Number of pages | 10 |
| Journal | TALANTA |
| Volume | 147 |
| Early online date | 21 Oct 2015 |
| Publication status | Published - 15 Jan 2016 |
Abstract
Analysis of variations in DNA structure using a low-density microarray technology for routine diagnostic in evidence-based medicine is still relevant. In this work the applicability of 3-D macroporous monolithic methacrylate-based platforms for detection of different pathogenic genomic substitutions was studied. The detection of nucleotide replacements in F5 (Leiden G/A, rs6025), MTHFR (C/T, rs1801133) and ITGB3 (T/C, rs5918), involved in coagulation, and COMT (C/G, rs4818), TPH2 (T/A, rs11178997), PON1 (T/A rs854560), AGTR2 (C/A, rs11091046) and SERPINE1 (5G/4G, rs1799889), associated with pregnancy complications, was performed. The effect of such parameters as amount and type of oligonucleotide probe, amount of PCR product on signal-to-noise ratio, as well as mismatch discrimination was analyzed. Sensitivity and specificity of mutation detections were coincided and equal to 98.6%. The analysis of SERPINE1 and MTHFR genotypes by both NGS and developed microarray was performed and compared.
Keywords
- Aryldialkylphosphatase/genetics, Base Sequence, Catechol O-Methyltransferase/genetics, Ethylene Glycols, Female, Genome, Human, Genotype, Humans, Integrin beta3/genetics, Methacrylates/chemistry, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Mutation, Oligonucleotide Array Sequence Analysis, Plasminogen Activator Inhibitor 1/genetics, Porosity, Pregnancy, Pregnancy Complications/genetics, Tryptophan Hydroxylase/genetics, Mutations, Macroporous polymer monoliths, Pregnancy complications, DNA microarrays, Single nucleotide polymorphism (SNP)
ASJC Scopus subject areas
- Chemistry(all)
- Analytical Chemistry
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In: TALANTA, Vol. 147, 15.01.2016, p. 537-546.
Research output: Contribution to journal › Article › Research › peer review
}
TY - JOUR
T1 - Detection of human genome mutations associated with pregnancy complications using 3-D microarray based on macroporous polymer monoliths
AU - Glotov, A S
AU - Sinitsyna, E S
AU - Danilova, M M
AU - Vashukova, E S
AU - Walter, J G
AU - Stahl, F
AU - Baranov, V S
AU - Vlakh, E G
AU - Tennikova, T B
N1 - Funding information: This work was financially supported by Grant of Russian Scientific Foundation (project 14-50-00069) and by personal Fellowship of President of Russian Federation ( SP-2763.2015.4 ) for Dr. E. Sinitsyna. We also thank Prof. Thomas Scheper for his great help in organization of all measurements and valuable discussions.
PY - 2016/1/15
Y1 - 2016/1/15
N2 - Analysis of variations in DNA structure using a low-density microarray technology for routine diagnostic in evidence-based medicine is still relevant. In this work the applicability of 3-D macroporous monolithic methacrylate-based platforms for detection of different pathogenic genomic substitutions was studied. The detection of nucleotide replacements in F5 (Leiden G/A, rs6025), MTHFR (C/T, rs1801133) and ITGB3 (T/C, rs5918), involved in coagulation, and COMT (C/G, rs4818), TPH2 (T/A, rs11178997), PON1 (T/A rs854560), AGTR2 (C/A, rs11091046) and SERPINE1 (5G/4G, rs1799889), associated with pregnancy complications, was performed. The effect of such parameters as amount and type of oligonucleotide probe, amount of PCR product on signal-to-noise ratio, as well as mismatch discrimination was analyzed. Sensitivity and specificity of mutation detections were coincided and equal to 98.6%. The analysis of SERPINE1 and MTHFR genotypes by both NGS and developed microarray was performed and compared.
AB - Analysis of variations in DNA structure using a low-density microarray technology for routine diagnostic in evidence-based medicine is still relevant. In this work the applicability of 3-D macroporous monolithic methacrylate-based platforms for detection of different pathogenic genomic substitutions was studied. The detection of nucleotide replacements in F5 (Leiden G/A, rs6025), MTHFR (C/T, rs1801133) and ITGB3 (T/C, rs5918), involved in coagulation, and COMT (C/G, rs4818), TPH2 (T/A, rs11178997), PON1 (T/A rs854560), AGTR2 (C/A, rs11091046) and SERPINE1 (5G/4G, rs1799889), associated with pregnancy complications, was performed. The effect of such parameters as amount and type of oligonucleotide probe, amount of PCR product on signal-to-noise ratio, as well as mismatch discrimination was analyzed. Sensitivity and specificity of mutation detections were coincided and equal to 98.6%. The analysis of SERPINE1 and MTHFR genotypes by both NGS and developed microarray was performed and compared.
KW - Aryldialkylphosphatase/genetics
KW - Base Sequence
KW - Catechol O-Methyltransferase/genetics
KW - Ethylene Glycols
KW - Female
KW - Genome, Human
KW - Genotype
KW - Humans
KW - Integrin beta3/genetics
KW - Methacrylates/chemistry
KW - Methylenetetrahydrofolate Reductase (NADPH2)/genetics
KW - Mutation
KW - Oligonucleotide Array Sequence Analysis
KW - Plasminogen Activator Inhibitor 1/genetics
KW - Porosity
KW - Pregnancy
KW - Pregnancy Complications/genetics
KW - Tryptophan Hydroxylase/genetics
KW - Mutations
KW - Macroporous polymer monoliths
KW - Pregnancy complications
KW - DNA microarrays
KW - Single nucleotide polymorphism (SNP)
UR - http://www.scopus.com/inward/record.url?scp=84945431364&partnerID=8YFLogxK
U2 - 10.1016/j.talanta.2015.09.066
DO - 10.1016/j.talanta.2015.09.066
M3 - Article
C2 - 26592644
VL - 147
SP - 537
EP - 546
JO - TALANTA
JF - TALANTA
SN - 0039-9140
ER -