A systematic study of single-nucleotide polymorphisms in theA4GALTgene suggests a molecular genetic basis for the P1/P2blood groups

Transfusion ◽  
2014 ◽  
Vol 54 (12) ◽  
pp. 3222-3231 ◽  
Author(s):  
Yin-Ju Lai ◽  
Wan-Yi Wu ◽  
Chen-Ming Yang ◽  
Li-Rong Yang ◽  
Chen-Chung Chu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Systematic Study ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Molecular Genetic Basis

scholarly journals Single Nucleotide Polymorphisms in Genes Associated with Isoniazid Resistance in Mycobacterium tuberculosis

2003 ◽  
Vol 47 (4) ◽  
pp. 1241-1250 ◽  
Author(s):  
Srinivas V. Ramaswamy ◽  
Robert Reich ◽  
Shu-Jun Dou ◽  
Linda Jasperse ◽  
Xi Pan ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Single Nucleotide Polymorphisms ◽  
Molecular Genetic ◽  
Mycolic Acid ◽  
Genetic Group ◽  
Clinical Isolates ◽  
Central Component ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

ABSTRACT Isoniazid (INH) is a central component of drug regimens used worldwide to treat tuberculosis. Previous studies have identified resistance-associated mutations in katG, inhA, kasA, ndh, and the oxyR-ahpC intergenic region. DNA microarray-based experiments have shown that INH induces several genes in Mycobacterium tuberculosis that encode proteins physiologically relevant to the drug's mode of action. To gain further insight into the molecular genetic basis of INH resistance, 20 genes implicated in INH resistance were sequenced for INH resistance-associated mutations. Thirty-eight INH-monoresistant clinical isolates and 86 INH-susceptible isolates of M. tuberculosis were obtained from the Texas Department of Health and the Houston Tuberculosis Initiative. Epidemiologic independence was established for all isolates by IS6110 restriction fragment length polymorphism analysis. Susceptible isolates were matched with resistant isolates by molecular genetic group and IS6110 profiles. Spoligotyping was done with isolates with five or fewer IS6110 copies. A major genetic group was established on the basis of the polymorphisms in katG codon 463 and gyrA codon 95. MICs were determined by the E-test. Semiquantitative catalase assays were performed with isolates with mutations in the katG gene. When the 20 genes were sequenced, it was found that 17 (44.7%) INH-resistant isolates had a single-locus, resistance-associated mutation in the katG, mabA, or Rv1772 gene. Seventeen (44.7%) INH-resistant isolates had resistance-associated mutations in two or more genes, and 76% of all INH-resistant isolates had a mutation in the katG gene. Mutations were also identified in the fadE24, Rv1592c, Rv1772, Rv0340, and iniBAC genes, recently shown by DNA-based microarray experiments to be upregulated in response to INH. In general, the MICs were higher for isolates with mutations in katG and the isolates had reduced catalase activities. The results show that a variety of single nucleotide polymorphisms in multiple genes are found exclusively in INH-resistant clinical isolates. These genes either are involved in mycolic acid biosynthesis or are overexpressed as a response to the buildup or cellular toxicity of INH.

Association of molecular genetic markers and oxidative stress indices in workers in contact with asbestos dust

2020 ◽  
pp. 560-560
Author(s):  
L. M. Bezrukavnikova ◽  
N. N. Anokhin ◽  
E. S. Tsidilkovskaya
Keyword(s):  
Oxidative Stress ◽  
Lipid Peroxidation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Stress Indices ◽  
Molecular Genetic Markers ◽  
And Oxidative Stress

The studied single-nucleotide polymorphisms EPHX1 (rs1051740), SAD2 (rs4880), MP9 (rs17576) in persons exposed to asbestos dust are associated with elevated levels of lipid peroxidation catabolites, which confirms their significance in the development of asbestos-related bronchopulmonary pathology.

scholarly journals Verification allelic polymorphism's of genes MTHFR and MTR in patients with psoriasis

1970 ◽  
Vol 21 ◽  
pp. 345-349
Author(s):  
A. M. Fedota ◽  
L. V. Roshcheniuk ◽  
T. V. Tyzhnenko ◽  
A. V. Admakina ◽  
I. V. Horaichuk ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Severe Form ◽  
Mthfr Gene ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Aim Analysis ◽  
Single Nucleotide ◽  
Significant Difference

Aim. Analysis of single nucleotide polymorphisms C677T, A1298C and A2756G of MTHFR and MTR one-carbon metabolism genes in patients with various forms of psoriasis in Ukrainian population. Methods. A molecular genetic analysis of 77 patients with vulgaris and arthropathic psoriasis by PCR-RFLP was carried out. Results. In patients with vulgaris and arthropathic psoriasis analysis of the distribution of frequencies of genotypes showed a statistically significant difference between them for C677T polymorphic variants. In patients with psoriasis analysis of genotype distribution of series in the two genes as a whole, showed a statistically significant difference between the theoretically expected and actual frequencies for single nucleotide polymorphisms A1298T and A2756G of MTHFR and MTR genes. Conclusions. Among patients with arthropatic psoriasis, which is the most severe form of psoriasis, the homozygotes for the wild-type allele G of A2756G of MTR gene are more rarely, homozygotes of the TT of C667T of MTHFR gene are found more common than among psoriasis vulgaris patients, which may indicate the contribution of other genes to the development of arthropatic psoriasis. Keywords: psoriasis, arthropatic psoriasis, folate cycle, MTHFR gene, MTR gene.

scholarly journals Association of single-­nucleotide polymorphisms rs10867772, rs4700290 with sudden cardiac death

2021 ◽  
Vol 17 (1) ◽  
pp. 7-11
Author(s):  
A. A. Ivanova ◽  
S. K. Malyutina ◽  
V. P. Novoselov ◽  
I. A. Rodina ◽  
O. V. Khamovich ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Single Nucleotide Polymorphisms ◽  
Cardiac Death ◽  
Statistical Significance ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotype Frequencies

The aim of the research is to verify the association with sudden cardiac death (SCD) of single nucleotide polymorphisms rs10867772 and rs4700290, identified as new molecular genetic markers of SCD in the own genome-wide pooled allelotyping.Material and methods. Case-control study. The SCD group is formed using the criteria of the European Society of Cardiology from the DNA bank of suddenly deceased residents of the Oktyabrsky district of Novosibirsk (n = 437, average age—53.1 ± 9.0 years, men — 73.5%, women — 26.5%) The control group (n = 405, average age 53.2 ± 9.2 years, men — 70.0%, women — 30.0%) is formed from the DNA bank of participants of MONICA and HAPIEE projects. DNA was isolated by phenol-­chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by the PCR-RFLP method.Results. No statistical significance was found in allele and genotype frequencies of rs10867772 and rs4700290 between groups, even in separating in sex and age (p> 0.05). Conclusion. Single nucleotide polymorphism rs10867772 and rs4700290 are not associated with SCD.

scholarly journals Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

2019 ◽  
pp. 35-41
Author(s):  
A. A. Ivanova ◽  
V. N. Maksimov ◽  
S. K. Malutina ◽  
V. P. Novoselov ◽  
M. I. Voevoda
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Sudden Cardiac Death ◽  
Single Nucleotide Polymorphisms ◽  
Cardiac Death ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and methods. As design we used case-control study. The SCD group was formed using the SCD criteria of the European Society of Cardiology (n=438, average age 53,2±9,1 years, male — 72,7%, women — 28,3%). The control group (n=435, average age 53,2±8,9 years, men — 70,0%, women — 30,0%) was selected by gender and age for the SCD group from the DNA bank of the international projects MONICA and HAPIEE. DNA was isolated by phenol-chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by polymerase chain reaction followed by analysis of estriction fragment length polymorphism. The results are statistically processed using the SPSS 16.0 software package.Results. No carriers of the rare allele A of the single nucleotide polymorphism rs74765750 were found in the SCD group and the control group. No statistically significant differences were found between the SCD group and the control group relating to frequencies of genotypes and alleles of single nucleotide polymorphisms rs7164665 and rs71461059. In the age group older than 50 years, the proportion of carriers of the heterozygous CT genotype of the single nucleotide polymorphism rs6762529 in the SCD group is statistically significantly lower compared to the control group (CT vs CC+TT: OR=0,686, 95% CI 0,483-0,967 p=0,035).Conclusion. The CT genotype of the single nucleotide polymorphism rs6762529 is associated with a protective effect on SCD for people over 50 years of age. The association with single nucleotide polymorphisms rs7164665, rs71461059, rs74765750 with SCD has not been confirmed.

scholarly journals MOLECULAR GENETIC STUDIES OF COMORBIDITY

2015 ◽  
Vol 14 (6) ◽  
pp. 94-102
Author(s):  
Ye. Yu. Bragina ◽  
M. B. Freidin
Keyword(s):  
Molecular Biology ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Gene Environment ◽  
Genome Variations ◽  
Genetic Specificity

This review focuses at the problem of the genetic basis of comorbidity. We discuss the concepts and terms relating to combinations of diseases. The guidelines of the study of comorbidity using modern high throughput methods and approaches of genetics, molecular biology and bioinformatics are designated. In this review we present results of studies showing genetic specificity for the combined phenotypes dif-ferent from the isolated disease, we considergene-gene and gene-environment interactions in comorbidity. We also discuss the role of single nucleotide polymorphisms and structural genome variations in the development of comorbidity. Own results of researching shared genes of inversely comorbid diseases like as bronchial asthma and tuberculosis are presented.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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