scholarly journals Butyrylcholinesterase Genes in Individuals with Abnormal Inhibition Numbers and with Trace Activity: One Common Mutation and Two Novel Silent Genes

1998 ◽  
Vol 35 (2) ◽  
pp. 302-310 ◽  
Author(s):  
Dilip Chandra Dey ◽  
Masato Maekawa ◽  
Kayoko Sudo ◽  
Takashi Kanno
Keyword(s):  
Dna Analysis ◽  
Common Mutation ◽  
Direct Dna Sequencing ◽  
Silent Genes ◽  
Pcr Rflp ◽  
Gene Polymerase Chain Reaction ◽  
The Common ◽  
Polymerase Chain ◽  
Conformation Polymorphism ◽  
New Mutations

A random population was screened for abnormal dibucaine and fluoride numbers (DN & FN) to find some common mutations in butyrylcholinesterase ( BCHE) gene. Of 2375 unrelated individuals, 10 were found to have low DN and FN and were selected for further studies. DNA analysis of these hypocholinesterasemics revealed that seven patients were heterozygous for missense mutation at codon 330 (TTA to ATA; BCHE*330I). The frequency of BCHE*330I mutation was calculated to be at least 0.29% among the Japanese. On the other hand, two novel mutations were found in three families and two individuals including probands whose enzyme activity was very low (silent gene). Polymerase chain reaction and single stranded conformation polymorphism (PCR-SSCP) and restriction fragment length polymorphism (PCR-RFLP) were used for identification of the common and known mutation types such as BCHE*250P (ACT to CCT), BCHE*365R (GGA to CGA), and BCHE*539T (GCA to ACA; K-polymorphism), whereas PCR-SSCP was used in combination with direct DNA sequencing for new mutations like BCHE*446V (TTT to GTT) and BCHE*451X (GAA to TAA).

scholarly journals A quick PCR-based method for identification of Melolontha melolontha and Melolontha hippocastani (Coleoptera: Scarabaeidae

2018 ◽  
Vol 29 (3) ◽  
pp. 141-145
Author(s):  
Anna Tereba ◽  
Marzena Niemczyk
Keyword(s):  
Insect Pests ◽  
Economic Losses ◽  
Morphological Identification ◽  
Effective Management ◽  
Severe Damage ◽  
Tissue Samples ◽  
Melolontha Melolontha ◽  
Pcr Rflp ◽  
The Common ◽  
Polymerase Chain

The common cockchafer (Melolontha melolontha) and the forest cockchafer (Melolontha hippocastani) are among the most destructive insect pests in many European countries. Larvae feed on the roots of numerous plant species, thus inflicting severe damage and heavy economic losses. The two species are often discussed together because they are difficult to distinguish during the larval stage.However, they differ slightly in ecology and development. The aim of this study was to develop a quick PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method for easily identifying the two Melolonthaspecies through tissue samples or larvae, when reliable morphological identification is lacking. The strength of the method was tested on 43 M. melolonthaand 37 M. hippocastani individuals. We demonstrate that the technique is rapid and inexpensive, with strong implications for the effective management of these insect pests.

scholarly journals Association Of Mir-196a (Rs11614913) And Mir-499 (Rs3746444) With Ischemic Stroke An Iranian Study

2017 ◽  
pp. 20
Author(s):  
Mehrzad Pourjafar ◽  
Halimeh Zare ◽  
Maryam Kohan ◽  
Negar Azarpira
Keyword(s):  
Polymerase Chain Reaction ◽  
Ischemic Stroke ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Increased Risk ◽  
Pcr Rflp ◽  
The Common ◽  
Polymerase Chain ◽  
And Function ◽  
Restriction Fragment Length

Objective: MicroRNAs are involved in the regulation of many physiological and pathological processes, such as atherosclerosis. Genetic polymorphisms in microRNA may affect its biogenesis and function. The aim of this study was to examine whether microRNA polymorphisms (mir-196a rs11614913 and mir-499 rs3746444) contribute to the risk of ischemic stroke. Methods: Genotyping was performed in 85 patients and 105 normal control, using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method.Results: In respect of rs11614913, significant association was observed between CC (P=0.003; OR= 0.41; CI=0.21 – 0.79), and TT (P=0.025; OR=2.22; CI=1.04 –4.8) genotypes. The inheritance of T allele increased the risk of ischemic stroke. There was a significant association between the GA genotype frequency of rs3746444 (P=0.01; OR= 0.41; CI=0.23– 0.87). TDiscussion: The present study provided evidence that the mir-196a and mir-499 polymorphisms are associated with a significantly increased risk of ischemic stroke in Iranian population. The common genetic polymorphism in pre-microRNAs may be contributed to the pathogenesis of ischemic stroke and represented as novel markers for stroke susceptibility.     

POLYMORPHISMS OF ENDOTHELIAL DYSFUNCTION GENES NOS3 AND CYBA IN YAKUT POPULATION

2020 ◽  
pp. 20-25
Author(s):  
Soloveva Yu.A. ◽  
Borisova N.V.
Keyword(s):  
Endothelial Dysfunction ◽  
Coronary Syndrome ◽  
Pathological Conditions ◽  
Nos3 Gene ◽  
Yakut Population ◽  
Length Polymorphisms ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
The Republic ◽  
Cyba Gene

Polymorphisms of different genes can predispose people to various diseases. They can influence the body's physiological response to exogenous risk factors. Polymorphisms of the endothelial dysfunction genes NOS3 and CYBA contribute to the development of socially significant diseases, such as acute coronary syndrome, stroke, as well as diseases accompanied by fibrotic changes (cirrhosis of the liver, pulmonary fibrosis, etc.). Therefore, the study of these genes in the Yakut population seems relevant. The present study involved 124 healthy volunteers, their ethnicity is Yakuts (including Yakuts in the third generation, living in the Republic of Sakha (Yakutia)). Genetic analysis of polymorphisms was performed by the method of polymerase chain reaction of restriction fragment length polymorphisms (PCR-RFLP). The study found that healthy Yakuts have GG homozygote of rs1799983 of the NOS3 gene in 83.87%, GT - 15.32%, TT - 0.81%. The frequency of the G allele was 91.53%, the T allele - 8.47%. The study found that healthy Yakuts have CC homozygote of rs4673 of the CYBA gene in 75.0%, CT - 21.77%, TT - 3.23%. The frequency of C allele was 91.44%, T - 8.56%. These results are consistent with the literature data. Thus, the research of the polymorphism rs1799983 of the NOS3 gene and rs4673 of the CYBA gene in various ethnic groups could have encouraging prospects in the personalized medicine for predicting pathological conditions associated with endothelial dysfunction: liver fibrosis, cardiovascular diseases, obstetric and gynecological pathologies, dysfunctions of various organs and systems.

scholarly journals The Molecular Bases Study of the Inherited Diseases for the Health Maintenance of the Beef Cattle

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 678
Author(s):  
Elena Konovalova ◽  
Olga Romanenkova ◽  
Olga Kostyunina ◽  
Elena Gladyr
Keyword(s):  
Dna Analysis ◽  
Genetic Defects ◽  
Health Maintenance ◽  
Angus Cattle ◽  
Hereford Cattle ◽  
Pcr Rflp ◽  
Cattle Herds ◽  
Molecular Bases ◽  
Further Development

The article highlighted the problem of meat cattle genetic defects. The aim was the development of DNA tests for some genetic defects diagnostics, the determination of the animal carriers and their frequencies tracking in time. The 1490 DNA samples from the Aberdeen Angus (n = 701), Hereford (n = 385), Simmental (n = 286) and Belgian Blue (n = 118) cattle have been genotyped on the genetic defects by newly created and earlier developed DNA tests based on AS-PCR and PCR-RFLP methods. The Aberdeen Angus cattle genotyping has revealed 2.38 ± 0.31% AMC-cows and 1.67 ± 0.19 % AMC-bulls, 0.65 ± 0.07% DDC-cows and 0.90 ± 0.10% DDC-bulls. The single animals among the Hereford cattle were carriers of MSUD and CWH (on 0.27 ± 0.05%), ICM and HY (on 0.16 ± 0.03%). The Simmental cattle were free from OS. All Belgian Blue livestock were M1- and 0.84%-CMD1-carriers. The different ages Aberdeen Angus cattle genotyping has shown the tendency of the AMC- and DDC frequencies to increase in the later generations. The statistically significant increase of DDC of 1.17% in the cows’ population born in 2019 compared to those born in 2015 allows concluding the further development of the DNA analysis-based measures preventing the manifestation of the genetic anomalies in meat cattle herds is necessary.

scholarly journals High Frequency of Cryptosporidium hominis Infecting Infants Points to A Potential Anthroponotic Transmission in Maputo, Mozambique

Pathogens ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 293
Author(s):  
Idalécia Cossa-Moiane ◽  
Hermínio Cossa ◽  
Adilson Fernando Loforte Bauhofer ◽  
Jorfélia Chilaúle ◽  
Esperança Lourenço Guimarães ◽  
...  
Keyword(s):  
Public Hospitals ◽  
Diagnostic Methods ◽  
Molecular Diagnostic ◽  
P Value ◽  
Cryptosporidium Hominis ◽  
Cryptosporidium Spp ◽  
Pcr Rflp ◽  
Maputo City ◽  
Stool Samples ◽  
Polymerase Chain

Cryptosporidium is one of the most important causes of diarrhea in children less than 2 years of age. In this study, we report the frequency, risk factors and species of Cryptosporidium detected by molecular diagnostic methods in children admitted to two public hospitals in Maputo City, Mozambique. We studied 319 patients under the age of five years who were admitted due to diarrhea between April 2015 and February 2016. Single stool samples were examined for the presence of Cryptosporidium spp. oocysts, microscopically by using a Modified Ziehl–Neelsen (mZN) staining method and by using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) technique using 18S ribosomal RNA gene as a target. Overall, 57.7% (184/319) were males, the median age (Interquartile range, IQR) was 11.0 (7–15) months. Cryptosporidium spp. oocysts were detected in 11.0% (35/319) by microscopy and in 35.4% (68/192) using PCR-RFLP. The most affected age group were children older than two years, [adjusted odds ratio (aOR): 5.861; 95% confidence interval (CI): 1.532–22.417; p-value < 0.05]. Children with illiterate caregivers had higher risk of infection (aOR: 1.688; 95% CI: 1.001–2.845; p-value < 0.05). An anthroponotic species C. hominis was found in 93.0% (27/29) of samples. Our findings demonstrated that cryptosporidiosis in children with diarrhea might be caused by anthroponomic transmission.

TCF7L2 rs7903146 C>T gene polymorphism is not associated with hypoglycemia in sulfonylurea-treated type 2 diabetic patients

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Georgia Ragia ◽  
Evgenia Katsika ◽  
Charalampia Ioannou ◽  
Vangelis G. Manolopoulos
Keyword(s):  
Common Adverse Effect ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Factors Affecting ◽  
Potential Association ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Type 2 Diabetic ◽  
Tcf7l2 Rs7903146

Abstract Objectives Hypoglycemia is the most common adverse effect of sulfonylureas (SUs) and a major concern when using these drugs. Transcription factor 7-like 2 (TCF7L2) rs7903146 C>T polymorphism is an established and well characterized genetic marker of type 2 diabetes (T2DM) risk. The aim of the present study was to analyze the potential association of TCF7L2 rs7903146 C>T polymorphism with SU-induced hypoglycemia in a well characterized cohort of SU-treated patients previously genotyped for cytochrome P450 2C9 (CYP2C9) and P450 oxidoreductase (POR). Methods The study group consisted of 176 SU-treated T2DM patients of whom 92 had experienced at least one drug-associated hypoglycemic event. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for TCF7L2 rs7903146 genotyping. Results TCF7L2 rs7903146 C>T genotype and allele frequency did not differ between cases and controls (p=0.745 and 0.671, respectively). In logistic regression analysis adjusted for other factors affecting hypoglycemia, including CYP2C9 and POR genotypes, TCF7L2 rs7903146 C>T polymorphism did not increase the risk of hypoglycemia (OR=1.238, 95% C.I.=0.750–2.044, p=0.405). Conclusions TCF7L2 rs7903146 C>T polymorphism is not associated with SU-induced hypoglycemia. Identifying additional gene polymorphisms associated with SU-induced hypoglycemia is crucial for improving T2DM patient therapy with SUs.

scholarly journals Investigation of JAK2V617F Mutation Prevalence in Patients with Beta Thalassemia Major

2019 ◽  
Author(s):  
Zari Tahannejad Asadi ◽  
Reza Yarahmadi ◽  
Najmaldin Saki ◽  
Mohammad Taha Jalali ◽  
Ali Amin Asnafi ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Thalassemia Major ◽  
Janus Kinase ◽  
Jak2v617f Mutation ◽  
Beta Thalassemia ◽  
Common Mutation ◽  
Signal Transducers ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Low Prevalence

AbstractBackgroundBeta (β)–thalassemia major is a genetic disorder with anemia and an increased level of erythropoietin by Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathway. JAK plays an important role in cell signaling, and the common mutation in the JAK2 gene in myeloid disorders is called JAK2V617F.MethodsA total of 75 patients with beta (β)-thalassemia major patients, including 34 males (45%) and 41 females (55%), were enrolled in this study. The presence of the JAK2V617F mutation was assessed using the amplification-refractory mutation–polymerase chain reaction (ARMS-PCR) technique.ResultsAmong the 75 patients, 14 patients (19%) tested positive and 61 patients (81%) tested negative for JAK2V617F mutation. We observed no statistically significant difference in sex, age, genotype, and JAK2V617F mutation among patients (P> .05). However, a significant difference between blood-transfusion frequency and JAK2V617F mutation was observed (P <.05).ConclusionDue to the low prevalence of JAK2V617F mutation in thalassemia, using a larger population of the patients to investigate this mutation in ineffective erythropoiesis can be useful.

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