scholarly journals The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes

2021 ◽  
Vol 12 ◽  
Author(s):  
Yiran Duan ◽  
Xuerong Leng ◽  
Chunyan Liu ◽  
Xiaohong Qi ◽  
Liping Zhang ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Clinical Information ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Rolandic Epilepsy ◽  
Current Dipole ◽  
Single Nucleotide ◽  
Temporal Lobes ◽  
Central Gyrus

Objective: To study the single nucleotide polymorphism rs662702 of ELP4-PAX6 in patients with idiopathic rolandic epilepsy syndromes (IRES) in China and explore the relationship between the distribution of rolandic spike sources and the single nucleotide polymorphism rs662702 in ELP4-PAX6.Methods: First, clinical information was obtained from patients diagnosed with IRES. Next, the single nucleotide polymorphism rs662702 of ELP4 was analyzed by using the Sanger method. Resting-state magnetoencephalography data were collected from 17 patients. We analyzed the epileptic spike sources using the single equivalent current dipole (SECD) model and determined the spike distributions across the whole brain. Finally, Fisher's test was performed to assess the correlation between the single nucleotide polymorphism rs662702 of ELP4-PAX6 and rolandic spike sources.Results: ELP4 rs662702 T alleles were found in 10.7% of IRES patients and occurred four times more frequently in these patients than in the healthy controls. TT homozygosity was found in one IRES patient (1.3%), while no TT homozygosity was found in the healthy control group. The IRES rolandic spike sources were unilateral in sixteen patients (94.1%) and were mainly located in the anterior central gyrus (58.8%). The spike source of patients without the ELP4 rs662702 T allele was correlated with the central region (p < 0.05). The rolandic spikes sources were significant correlated with the non-central gyrus (frontal and temporal lobes) in patients with the ELP4 rs662702 T allele (p < 0.05).Conclusion: The rolandic spike sources of the IRES patients with the ELP4 rs662702 T allele were significantly associated with the non-central gyrus, including the frontal and temporal lobes. Our study confirmed for the first time in vivo that ELP4 rs662702 T allele overexpression is correlated with the rolandic spike distribution in patients with IRES and provides important insights into how genetic abnormalities can lead to brain dysfunction and into the precise targeting of abnormal discharge sources in the brain.

scholarly journals Association of rs556621 Polymorphism with Development of Stroke in Patients with Cardiovascular Pathology

2019 ◽  
Vol 15 (5) ◽  
pp. 634-640
Author(s):  
S. Yu. Nikulina ◽  
V. A. Shulman ◽  
A. A. Chernova ◽  
S. V. Prokopenko ◽  
D. A. Nikulin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Arterial Hypertension ◽  
Main Group ◽  
Lipid Lowering ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Supraventricular Tachycardias ◽  
Brachiocephalic Arteries

Aim. To study the association of single nucleotide polymorphism rs556621 (G> T) with development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors.Material and methods. The study involved 260 patients (157 men and 103 women) with stroke (mean age 57.0 [51.0-62.0]) and 272 patients (170 men and 102 women) of the control group (mean age 55.0 [51.0-62.0]). The examination of the main group included: collection of complaints, anamnesis, clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, ultrasound duplex scanning of extracranial brachiocephalic arteries, daily blood pressure and heart rate monitoring, analysis of the blood coagulation system. The patients of the main group have arterial hypertension, paroxysmal supraventricular tachycardias, dyslipidemia, atherosclerosis of the brachiocephalic arteries, disorders of the hemostatic system. The control group was studied in the framework of the HAPIEE international project. Molecular genetic research was performed by real-time polymerase chain reaction.Results. There were no statistically significant differences in the frequencies of genotypes and single nucleotide polymorphism rs556621 alleles (G>T) in the subgroup of patients with stroke and those in the control group. The frequency of the rare TT genotype among patients with stroke was 13.3%±4.16, among healthy individuals – 8.8±3.37% (p=0.1). Gender differences when comparing the frequencies of genotypes and alleles were also not detected (p>0.05). The frequencies of the TT genotype were approximately the same in the subgroup of patients with arterial hypertension (13.1%±4.22) and in the control group (7.4±5.25%; p>0.05). No significant differences were observed in the frequencies of the rare genotype of the studied polymorphism in the subgroup of patients with supraventricular tachycardias (20.0±14.37%), hypercoagulability (15.9±7.64%) and the control group (8.8±3.37%), p>0.05. A statistically significant relationship was found between the rare genotype TT of single nucleotide polymorphism rs556621 (G>T) and the development of stroke in patients with dyslipidemia and atherosclerotic lesions of the coronary arteries (p=0.041; odds ratio 1.86, 95% confidence interval 1.02-3.41).Conclusion. The genotype of TTs of single nucleotide polymorphism rs556621 (G> T) increases the risk of developing stroke in patients with dyslipidemia and atherosclerosis of the brachiocephalic arteries compared with carriers of the GG and GT genotypes. The obtained data are recommended to be considered when prescribing lipid-lowering and antithrombotic therapy. 

scholarly journals THE PROGNOSTIC SIGNIFICANCE OF TET2 SINGLE NUCLEOTIDE POLYMORPHISM IN EGYPTIAN CHRONIC MYELOID LEUKEMIA

2020 ◽  
Vol 12 (1) ◽  
pp. e2020004
Author(s):  
Enas A Dammag ◽  
Nahla A.M. Hamed ◽  
Nabil A El Halawani ◽  
Heba S Kassem ◽  
Mona W Ayad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Statistical Significance ◽  
Control Group ◽  
Spleen Size ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Prognostic Criteria ◽  
And Control

Background: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm. The pathogenesis of CML is based on the oncoprotein termed BCR‐ABL1. TET2 initiates DNA demethylation and is frequently mutated in hematological malignancies including CML.(1) The relation between TET2 acquisition and CML transformation and/or imitinab resistance is needed to be investigated. (2) Aim: To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in chronic myeloid leukemia (CML) in relation to the disease prognostic criteria. Materials & Method: The study included 84 subjects; 54 CML in chronic phase and 30 healthy subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, biochemical investigations and molecular study were performed in CML patients to identify the disease stage. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500. Results: The mean age was 45.98±15.7 yrs in CML patients and   39.3±6.587 yrs in control group (p>0.05). TET2 SNP rs 34402524 was either heterozygous and homozygous in CML (48%,and 46.2%) but was mainly homozygous among control (80%) group (p=0.012). TET2 SNP rs 2454206 cases within CML (65.4%) and control (63.3%) group had wild patterns (p=0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all groups (CML and control) showing no statistical significance (p=0.528). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted (p>0.05) yet, it was significantly related to spleen size in rs 34402524 where homozygous group had huger sizes and higher BCR-ABL1 levels 6 months after starting TKIs (p<0.05). Conclusions/Recommendation: TET2 SNP is a common in Egyptian chronic myeloid leukemia. TET2 SNP rs 3442524 was associated with huger spleen size and higher BCR-ABL1 levels after 6 months of starting TKIs suggesting disease progression.

scholarly journals Single-Nucleotide-Polymorphism-Specific PCR for Quantification and Discrimination of Chlamydia pneumoniae Genotypes by Use of a “Locked” Nucleic Acid

2006 ◽  
Vol 72 (5) ◽  
pp. 3785-3787 ◽  
Author(s):  
Jan Rupp ◽  
Werner Solbach ◽  
Jens Gieffers
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chlamydia Pneumoniae ◽  
Locked Nucleic Acid ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Specific Pcr ◽  
Intraspecies Diversity

ABSTRACT Single-nucleotide polymorphisms (SNPs) are targets to discriminate intraspecies diversity of bacteria and to correlate a genotype with a potential pathotype. Quantification of polygenotypic populations supports this task for in vitro and in vivo applications. We present a novel assay capable of quantifying mixtures of two genotypes differing by only one SNP.

scholarly journals A Novel Assay for Viral MicroRNA Function Identifies a Single Nucleotide Polymorphism That Affects Drosha Processing

2006 ◽  
Vol 80 (11) ◽  
pp. 5321-5326 ◽  
Author(s):  
Eva Gottwein ◽  
Xuezhong Cai ◽  
Bryan R. Cullen
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Target Genes ◽  
Human Herpesvirus ◽  
Northern Analysis ◽  
Luciferase Expression ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Stem Loop

ABSTRACT MicroRNAs (miRNAs) are a class of ∼22-nucleotide noncoding RNAs that inhibit the expression of specific target genes at the posttranscriptional level. Recently, 11 miRNAs encoded by the pathogenic human herpesvirus Kaposi's sarcoma-associated herpesvirus (KSHV) were cloned from latently infected cells. While the expression of these miRNAs has been confirmed by Northern analysis, their ability to inhibit target gene expression has not been demonstrated. We have devised a novel assay for miRNA function that uses lentiviral indicator vectors carrying two perfectly complementary target sites for each given miRNA in the 3′ untranslated region of the Renilla luciferase gene. This assay allowed us to demonstrate the activity of each viral miRNA upon cotransduction of cells with the Renilla luciferase indicator vector together with a firefly luciferase control vector. In KSHV-infected BC-1 and BCBL-1 cells, but not uninfected control cells, Renilla luciferase expression was selectively reduced up to 10-fold. Interestingly, one of the viral miRNAs (miR-K5) exhibited much higher activity in BC-1 cells than in BCBL-1 cells. Sequence analysis of both viral genomes revealed a single nucleotide polymorphism in the miR-K5 precursor stem-loop, which inhibits the expression of mature miR-K5 in BCBL-1 cells. We show that the primary miR-K5 sequence present in BCBL-1 results in diminished processing by Drosha both in vivo and in vitro. This is the first report of a naturally occurring sequence polymorphism in an miRNA precursor that results in reduced processing and therefore lower levels of mature miRNA expression and function.

scholarly journals Influence of a single-nucleotide polymorphism of AKT1 (rs2498796) and HEY2 (rs13328928) genes on the risk of endometrial cancer in women of the Republic of Tatarstan

2019 ◽  
Vol 100 (5) ◽  
pp. 769-773
Author(s):  
R I Gabidullina ◽  
F R Nukhbala ◽  
G A Smirnova ◽  
Yu I Orlova ◽  
A A Shakirov ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Endometrial Cancer ◽  
Statistical Significance ◽  
Control Group ◽  
Endometrioid Carcinoma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cancer Group ◽  
The Republic ◽  
Group 2

Aim. To analyze the prevalence of different polymorphisms of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) and to determine the association of revealed polymorphisms with the risk of endometrioid carcinoma in women living in the Republic of Tatarstan. Methods. 161 female citizens of Tatarstan were enrolled. The study group included 60 patients with endometrial cancer (endometrioid carcinoma) and the control group enrolled 101 women without endometrial pathology. The age of the subjects ranged from 41 to 91 years. The single-nucleotide polymorphism of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) was determined by real-time polymerase chain reaction. We ran a 2 test and evaluated the odds ratio. Results. The risk of endometrial cancer was higher in carriers of homozygous T/T genotype of AKT1 gene (rs2498796) without statistical significance (OR=1.61, 95% CI=0.614.21, p=0.62). Homozygous C/C genotype of HEY2 gene (rs13328928) with the mutant allele C was observed in endometrial cancer group with a frequency of 0.383 and 0.287 in the control group (2=1.70, p=0.43). The risk of endometrial cancer was higher in the group of homozygous C/C genotype without statistical significance (OR=1.54, 95% CI=0.793.03, p=0.43). Conclusion. Among 161 females citizens of the Republic of Tatarstan included into the study, the associations of the mutant alleles of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) with the risk of endometrial cancer were not identified; the prevalence of alleles and genotypes was found to be comparable with the European one.

193 BOVINE EMBRYO GENOTYPING USING A 50K SINGLE NUCLEOTIDE POLYMORPHISM CHIP

2011 ◽  
Vol 23 (1) ◽  
pp. 197 ◽  
Author(s):  
A. D. Le Bourhis ◽  
E. Mullaart ◽  
P. Humblot ◽  
W. Coppieters ◽  
C. Ponsart
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Room Temperature ◽  
Drop Out ◽  
Bovine Embryo ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Good Efficiency ◽  
Student’S T

Genomic tools are now available for most livestock species and are used routinely for marker-assisted selection (MAS) and genomic selection (GS) in cattle. Recently, multiple-marker detection has been achieved from biopsies of preimplantation stage embryos, thus allowing embryos to be selected before transfer (Le Bourhis et al. 2009 Reprod. Fertil. Dev. 21, 192 abst). This strategy provides the opportunity to estimate some traits of particular interest, the presence of genetic abnormalities, or both. The present work aimed to assess the efficiency of MAS/GS evaluation from biopsied bovine embryos by using the bovine 50K single nucleotide polymorphism (SNP) Illumina chip. A biopsy of 5 to 10 cells was obtained under laboratory conditions, using a microblade under a stereomicroscope, from 29 in vitro-cultured morulae and blastocysts. Biopsies were transferred individually as dry samples in tubes and sent frozen (n = 13) or at room temperature (n = 16) to the genotyping laboratory. The genomic DNA of each biopsy was amplified using a whole-genome amplification (WGA) kit according to the manufacturer’s instructions (Qiagen REPLI-g® Mini Kit, Qiagen, Valencia, CA). Following WGA, DNA concentration was determined by using PicoGreen. For subsequent genotyping, a custom CRV 50K Illumina chip was used. Call rates were calculated from 50 905 SNP. Percentage of allele drop-out (%ADO), which was estimated from the number of heterozygous markers [%ADO = (calculated hetero – observed hetero)/calculated hetero]. Parentage error was estimated from 12 embryos by using the genotypes of the parents of the embryos. Both groups of transport conditions were compared using Student’s t-test. Results are presented as mean ± SEM. A greater quantity of DNA was obtained after amplification of biopsies that were sent frozen to the laboratory when compared with those at room temperature (P < 0.05). However, the SNP call rate, %ADO, and parentage error did not differ between groups. These results indicate that genotyping from embryo biopsies following WGA can be achieved with good efficiency when using high-density marker chips. To validate the use of MAS/GS from early embryos in breeding schemes, a larger number of in vivo embryos are currently genotyped under field conditions. This will allow the reliability of this method to be assessed and the correlation between embryo and calf genetic evaluation to be quantified with the current WGA efficiency. Table 1.Amount of DNA after WGA and genotyping results

scholarly journals A study of single nucleotide polymorphism of leptin gene effect on serum copper, zinc and iron concentrations in Czech Pied bulls

2013 ◽  
Vol 82 (3) ◽  
pp. 259-263
Author(s):  
Aleš Pavlík ◽  
Petr Sláma ◽  
Aleš Knoll ◽  
Aleš Dufek ◽  
Petr Škarpa ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Trace Elements ◽  
Adipose Tissue ◽  
Carcass Composition ◽  
The Body ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Copper Zinc ◽  
Iron Concentrations

Leptin, the product of the ob gene, is secreted mainly in adipose tissue. Due to the associations between plasma leptin concentrations and body fat, leptin could be used as an indicator for the in vivo evaluation of carcass composition in breeding programs. Previous studies showed relation between leptin concentrations and some trace elements, suggesting that they might be mediators of leptin production. The present study was designed to evaluate the effect of single nucleotide polymorphism of the leptin gene on concentration of trace elements in the serum of 58 Czech Pied bulls. Three experimental groups of bulls were formed depending on different leptin genotypes: group CC (n = 28), group CT (n = 21) and group TT (n = 9). In all groups, the age (at a mean age of 240 days) and the body weight (mean 291 ± 11 kg) difference among the chosen animals was non-significant. Blood samples of all bulls in experimental groups were collected from vena jugularis externa between 8.00 and 9.30 h. Concentrations of copper, zinc and iron in the serum of animals were measured. Significantly lower (P < 0.05) zinc concentrations were recorded in bulls of TT group (13.21 ± 1.81 µmol·l-1) compared to CC (20.09 ± 1.11 µmol·l-1) and CT group (19.67 ± 1.45 µmol·l-1). In case of copper and iron concentrations in serum of animals, no differences were recorded between the tested groups. This is the first study of its kind in Czech Pied cattle. Based on our results, we may assume that zinc plays some role in the metabolism of adipose tissue, havings an effect on beef quality.

scholarly journals Association between Single Nucleotide Polymorphism of Vitamin D Receptor Gene FokI Polymorphism and Clinical Progress of Benign Prostatic Hyperplasia

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Li Ruan ◽  
Jian-guo Zhu ◽  
Cong Pan ◽  
Xing Hua ◽  
Dong-bo Yuan ◽  
...  
Keyword(s):  
Vitamin D ◽  
Single Nucleotide Polymorphism ◽  
Benign Prostatic Hyperplasia ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Prostatic Hyperplasia ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Vdr Gene ◽  
Single Nucleotide

Background.The aim of the study was to investigate the association between single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) gene and clinical progress of benign prostatic hyperplasia (BPH) in Chinese men.Methods.The DNA was extracted from blood of 200 BPH patients with operation (progression group) and 200 patients without operation (control group), respectively. The genotypes of VDR gene FokI SNP represented by “F/f” were identified by PCR-restriction fragment length polymorphism. The odds ratio (OR) of having progression of BPH for having the genotype were calculated.Results. Our date indicated that the f alleles of the VDR gene FokI SNP associated with the progression of BPH (P=0.009).Conclusion. For the first time, our study demonstrated that VDR gene FokI SNP may be associated with the risk of BPH progress.

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