scholarly journals POLYMORPHIC VARIANTS OF THE VDR GENE IN CHILDREN WITH PSORIASIS

2020 ◽  
pp. 8-15
Author(s):  
E.O. Murzina ◽  
◽  
Z.I. Rossokha ◽  

The objective. To study and analyze the differences in prevalence of ApaI (A/C) and TaqI (T/C) polymorphic variants of the VDR gene in children with psoriasis depending on gender. Materials and methods. We examined 56 children with psoriasis aged 4–17. Psoriasis was determined based on clinical findings and generally accepted diagnostic criteria. The buccal epithelium, taken from children, served as the material for genotyping. ApaI and TaqI polymorphisms of the VDR gene were detected using the polymerase chain reaction (PCR) technique and the following restriction fragment length polymorphism (RFLP) analysis. The values were calculated using the STATISTICA software package. Results and discussion. When studying polymorphic variants of the VDR gene, AC (48.21%) and TC (47.37%) heterozygotes were identified to prevail by ApaI (A/C) and TaqI (T/C) allele frequency in the group of children with psoriasis. In the group of boys with psoriasis the number of AA homozygotes (8.70%) by ApaI was apparently less than in the group of healthy ones (58.33%), TT homozygous variants (56.52%) prevailed by TaqI polymorphic variant, while in the group of healthy boys – TC heterozygotes (44.00%). Based on the research results the increasing frequency of the ApaI C allele (0.56) and significant frequency of the TaqI T allele (0.68), which prevails due to the distinctions between groups of boys with psoriasis and healthy ones, were registered in the group of children with psoriasis. Five haplotype combinations, in the loci studied, were detected in children, and TTCC haplotype (32.14%) as well as TCAC (35.71%) prevailed, while CCAA haplotype (8.93%) was least in number. Conclusion. Statistically significant differences by the frequency of ApaI (A/C) and TaqI (T/C) polymorphic variants were detected between groups of children with psoriasis and healthy children. While grouping haplotype frequencies by two polymorphic variants of the VDR gene, a statistically significant difference was detected between groups of children with psoriasis and healthy ones, which takes place due to a statistically significant difference in the frequencies of TTAA and TTCC haplotypes between groups. The risk of psoriasis was reported to be the highest in children with TTCC haplotype.

Plant Disease ◽  
2001 ◽  
Vol 85 (1) ◽  
pp. 76-79 ◽  
Author(s):  
Keri Wang ◽  
Chuji Hiruki

DNA isolated from symptomatic canola (Brassica napus, Brassica rapa) and dandelion (Taraxacum officinale) was used to amplify 16S ribosomal DNA fragments by polymerase chain reaction using two pairs of universal primers P1/P6 and R16F2n/R2. Restriction fragment length polymorphism (RFLP) analysis of the amplified DNA fragments using endonucleases AluI, HhaI, HpaII, MseI, RsaI, and Sau 3AI revealed two distinct types of phytoplasmas in canola with similar symptoms. One had the same RFLP profiles as the phytoplasmas in subgroup 16SrI-A, whereas the other one had RFLP profiles similar to those of phytoplasmas in subgroup 16SrI-B. Phytoplasmas were detected in symptomatic dandelion plants that were collected from canola and alfalfa fields where severe alfalfa witches'-broom occurred. Comparative studies indicated that two different phytoplasmas were associated with the dandelion plants. One was identified as a member of subgroup 16SrI-A, whereas another one was classified as a member of a distinct subgroup in the aster yellows group on the basis of the unique RFLP patterns.


2019 ◽  
Author(s):  
Ayat B. Al-Ghafari ◽  
Areej M. Alqahtani ◽  
Suzan N. Alturki ◽  
Huda Abdulaziz Al Doghaither ◽  
Hanaa M. Tashkandi ◽  
...  

Abstract Background Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein (Pgp), which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms may change either the protein expression or function, suggesting its possible association with cancers, including colorectal cancer (CRC). Thus, this study aimed to determine the effects of MDR1 polymorphisms on the drug response of Saudi CRC patients.Methods DNA samples were obtained from 62 CRC patients and 100 healthy controls. The genotypes and allele frequencies of the MDR1 polymorphisms G2677T and T1236C were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results No significant difference was observed in the genotype distribution and allele frequency of T1236C between the CRC the patients and the controls. However, G2677T was found to play a highly significant protective role against the progression of CRC. Moreover, the results showed that none of the genotypes in SNPs T1236C and G2677T affected chemoresistance to Xeliri and Xelox.Conclusions T1236C in the MDR1 gene is not related to CRC risk, and G2677T protects against the development of CRC. Both MDR1 polymorphisms are not associated with the risk of chemoresistance.


Plant Disease ◽  
2007 ◽  
Vol 91 (7) ◽  
pp. 857-864 ◽  
Author(s):  
C. Vaïanopoulos ◽  
C. Bragard ◽  
V. Moreau ◽  
H. Maraite ◽  
A. Legrève

Polymyxa graminis f. sp. temperata and P. graminis f. sp. tepida are distinguished on the basis of their specific ribosomal DNA sequences. In order to evaluate whether or not host specialization is associated with the special form, the occurrence of infection of both forms on barley and wheat was studied. P. graminis inocula were obtained from soils collected in Belgium and France. Their ribotypes were characterized using molecular tools specific to P. graminis f. sp. temperata or P. graminis f. sp. tepida such as restriction fragment length polymorphism (RFLP) analysis of polymerase chain reaction (PCR)-amplified rDNA, nested and multiplex PCR. Both special forms were found in each country and coexisted in some soils. The host specificity of P. graminis special forms for barley and wheat was studied from two soils collected at Gembloux (Belgium) and Chambon-sur-Cisse (France), each infested by bymo- and furoviruses. P. graminis f. sp. temperata is more frequent on barley and P. graminis f. sp. tepida on wheat. Furthermore, the quantification of each form on barley and wheat by two separated real-time quantitative PCR assays confirms the observations on the vector specialization. These results suggest a certain but not exclusive host specificity of P. graminis special forms.


2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Muzaffer Ilhan ◽  
Bahar Toptas-Hekimoglu ◽  
Ilhan Yaylim ◽  
Seda Turgut ◽  
Saime Turan ◽  
...  

Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.


Genome ◽  
1991 ◽  
Vol 34 (5) ◽  
pp. 693-703 ◽  
Author(s):  
Elizabeth M. Gillet

Restriction fragment length polymorphism (RFLP) analysis in the broad sense is the analysis of differences in restriction fragment pattern produced by defined target segments within or between cell compartments, cell types, etc., in a single individual or in different individuals. Thus both molecular hybridization and DNA amplification by two-primer extension using the polymerase chain reaction can define target segments for RFLP analysis. The two techniques are outlined with special consideration of characteristics important for genetic analysis. The mode of inheritance of restriction fragment patterns as a prerequisite for their use as genetic markers in inheritance studies is explained, leading to criticism of common usage. The importance of internal restriction sites for the determination of allelic variation is stressed. It is shown that, if target segments are under the control of a single nuclear diploid restriction fragment locus, then complete reconstruction of all parental target segments requires controlled crosses between individuals of like restriction fragment pattern.Key words: genetic analysis, inheritance, restriction fragment length polymorphism, controlled cross, polymerase chain reaction.


2021 ◽  
Vol 74 (5) ◽  
pp. 1200-1203
Author(s):  
Vladyslava V. Kachkovska ◽  
Anna V. Kovchun ◽  
Iryna O. Moyseyenko ◽  
Iryna O. Dudchenko ◽  
Lyudmyla N. Prystupa

The aim: The objective of the study was to analyze the frequency of Arg16Gly polymorphism in the β2 -adrenoceptor (β2 -АR) gene in patients with bronchial asthma (BA) and to assess the association of the polymorphism with BA risk. Materials and methods: We examined 553 BA patients and 95 apparently healthy individuals. Arg16Gly polymorphism in the β2 -АR gene (rs1042713) was determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results: It was established that distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes for Arg16Gly polymorphism in the β2 -АR gene was 44.2%, 40.0%, 15.8% in the control group vs. 31.3%; 45.7% and 23.0 among BA patients, respectively (χ2 = 6.59; р = 0.037). No significant difference was observed with regards to the distribution of genotypes for Arg16Gly polymorphism in the β2 -АR gene in men and women controls (χ2 = 4.05; р = 0.13) and BA patients (χ2 = 4.34; р = 0.11). BA risk was 1.74 times higher in the minor allele carriers (Arg/Gly + Gly/Gly genotypes) for Arg16Gly polymorphism in the β2 -АR gene. Conclusions: Analysis of Arg16Gly polymorphic variants in the β2-AR gene showed a statistically significant difference in the distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes in patients with BA and apparently healthy individuals due to the higher frequency of Arg/Arg genotype in controls and higher frequency of Gly/Gly genotype in patients with asthma. No difference with regard to gender was found in the distribution of genotypes.


HortScience ◽  
2000 ◽  
Vol 35 (4) ◽  
pp. 712-715 ◽  
Author(s):  
Kentaro Kitahara ◽  
Junichi Soejima ◽  
Hiromitsu Komatsu ◽  
Hirokazu Fukui ◽  
Shogo Matsumoto

The S-locus genes in the pistil (S-RNases) were cloned from the apple (Malus ×domestica Borkh.) cultivar Akane (S-genotype SdSh from pollination analysis). The Sd- and Sh-RNase corresponded to S7- and S24-RNase, which have been cloned from `Idared' and `Braeburn', respectively. Sh-RNase was very similar to Sf- and Sg-RNases at the deduced amino acid-sequence levels (93%). We developed an S-allele specific polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis method for distinguishing the Sh from Sf and Sg, and the Sh-alleles of `Akane', `Touhoku 2', `Vista Bella', and `Worcester Pearmain' were identified. We also identified the S-allele genotypes of 16 apple cultivars.


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