scholarly journals Prevalence of MDR1 C3435T and CYP2B6 G516T Polymorphisms among HIV-1 Infected South African Patients

2012 ◽  
Vol 32 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Tracy Madimabi Masebe ◽  
Pascal Obong Bessong ◽  
Julius Nwobegahay ◽  
Roland Ndip Ndip ◽  
Debra Meyer

Data on genetic polymorphisms associated with response to anti-HIV drugs has accumulated over the years. Information on how polymorphisms influence drug metabolism and transport to target sites is important in guiding dosage or selection of appropriate alternative therapies. This study determined the frequency of MDR1 C3435T and CYP2B6 G516T polymorphisms associated with the transport and metabolism of efavirenz and nevirapine, in a population of South African HIV infected patients. In addition, association of polymorphisms with immunologic and virologic factors was investigated. A 207bp of MDR1 exon 26 and a 161bp of CYP2B6 exon 4 were obtained from patients by polymerase chain reaction. Analysis of population-based sequences of MDR1 revealed a frequency of 89% and 11% of C and T alleles respectively (n=197; X2= 0.974;p=0.324). Restriction fragment length polymorphism (RFLP) analysis of the CYP2B6 gene revealed a prevalence of 9.5% of GG, 78.4% of GT and 12.1% of TT genotype (n= 199; X2= 65.204; p=0.00). There was no significant difference between immune recovery and decline in viral load (n=53), with genotype after repeated calculations of analysis of variance (ANOVA).

2009 ◽  
Vol 2 (2) ◽  
pp. 67-70
Author(s):  
Roman Müllenbach ◽  
Natasha Tetlow ◽  
Amanda Bennett ◽  
Fiona Broughton Pipkin ◽  
Linda Morgan ◽  
...  

The DD genotype of the angiotensin-converting enzyme (ACE) gene is over-represented in Finnish patients with obstetric cholestasis (OC). The purpose of this study was to establish whether this genotype is associated with cholestasis in UK cases. In a retrospective case-control study, we determined the ACE insertion/deletion frequencies in 166 British cases and 100 control women by polymerase chain reaction analysis. No significant difference in allele frequencies was found between these groups, but allele frequencies differed significantly between Finnish and UK OC cases ( P = 0.0005). The prevalence of the DD genotype is lower in UK cases than in controls (χ2 [1 d.f.] = 4.32, P = 0.05) and the odds ratio for OC associated with the DD genotypeis 0.54, 95% confidence interval 0.30–0.97. In contrast to Finnish OC cases, the DD genotype of the ACE is not increased in UK cases.


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.


1987 ◽  
Vol 18 (3) ◽  
pp. 250-266 ◽  
Author(s):  
R. Jane Lieberman ◽  
Ann Marie C. Heffron ◽  
Stephanie J. West ◽  
Edward C. Hutchinson ◽  
Thomas W. Swem

Four recently developed adolescent language tests, the Fullerton Test for Adolescents (FLTA), the Test of Adolescent Language (TOAL), the Clinical Evaluation of Language Functions (CELF), and the Screening Test of Adolescent Language (STAL), were compared to determine: (a) whether they measured the same language skills (content) in the same way (procedures); and (b) whether students performed similarly on each of the tests. First, respective manuals were reviewed to compare selection of subtest content areas and subtest procedures. Then, each of the tests was administered according to standardized procedures to 30 unselected sixth-grade students. Despite apparent differences in test content and procedures, there was no significant difference in students' performance on three of the four tests, and correlations among test performance were moderate to high. A comparison of the pass/fail rates for overall performance on the tests, however, revealed a significant discrepancy between the proportions of students identified in need of further evaluation on the STAL (20%) and the proportion diagnosed as language impaired on the three diagnostic tests (60-73%). Clinical implications are discussed.


1994 ◽  
Vol 71 (05) ◽  
pp. 651-654 ◽  
Author(s):  
Rainer Kalb ◽  
Sentot Santoso ◽  
Katja Unkelbach ◽  
Volker Kiefel ◽  
Christian Mueller-Eckhardt

SummaryAlloimmunization against the human platelet alloantigen system Br (HPA-5) is the second most common cause of neonatal alloimmune thrombocytopenia (NAIT) in Caucasian populations. We have recently shown that a single base polymorphism at position 1648 on platelet mRNA coding for GPIa results in an aminoacid substitution at position 505 on the mature GPIa which is associated with the two serological defined Br phenotypes.Since DNA-typing of platelet alloantigens offers possibilities for useful clinical applications, we designed genomic DNA-based restriction fragment length polymorphism (RFLP) typing for Br alloantigens. To establish this technique we analyzed the genomic organization of GPIa adjacent to the polymorphic base. Using the polymerase chain reaction (PCR) of blood cell DNA we have identified two introns (approximately 1.7 and 1.9 kb) flanking a 144 bp coding sequence of the GPIa gene encompassing the polymorphic base 1648. Based on the in- tron sequence, a PCR primer was constructed to amplify a 274 bp fragment which was used for allele-specific RFLP to determine the Br genotypes. The results of RFLP analysis using Mnll endonuclease obtained from 15 donors (2 Br37*, 2 Br^ and 11 Brb/b) correlate perfectly with serological typing by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay.


2016 ◽  
Vol 33 (1) ◽  
pp. 45-69
Author(s):  
Stephanus Muller

Stephanus Le Roux Marais (1896−1979) lived in Graaff-Reinet, South Africa, for nearly a quarter of a century. He taught music at the local secondary school, composed most of his extended output of Afrikaans art songs, and painted a number of small landscapes in the garden of his small house, nestled in the bend of the Sunday’s River. Marais’s music earned him a position of cultural significance in the decades of Afrikaner dominance of South Africa. His best-known songs (“Heimwee,” “Kom dans, Klaradyn,” and “Oktobermaand”) earned him the local appellation of “the Afrikaans Schubert” and were famously sung all over the world by the soprano Mimi Coertse. The role his ouevre played in the construction of a so-called European culture in Africa is uncontested. Yet surprisingly little attention has been paid to the rich evocations of landscape encountered in Marais’s work. Contextualized by a selection of Marais’s paintings, this article glosses the index of landscape in this body of cultural production. The prevalence of landscape in Marais’s work and the range of its expression contribute novel perspectives to understanding colonial constructions of the twentieth-century South African landscape. Like the vast, empty, and ancient landscape of the Karoo, where Marais lived during the last decades of his life, his music assumes specificity not through efforts to prioritize individual expression, but through the distinct absence of such efforts. Listening for landscape in Marais’s songs, one encounters the embrace of generic musical conventions as a condition for the construction of a particular national identity. Colonial white landscape, Marais’s work seems to suggest, is deprived of a compelling musical aesthetic by its very embrace and desired possession of that landscape.


2016 ◽  
Vol 13 (1) ◽  
pp. 1-17 ◽  
Author(s):  
Dabesaki Mac-Ikemenjima

There is growing interest in the development of measures and indexes of youth wellbeing. However, there has been a limited discussion on indicators to measure and select them. This paper reports on the results of a qualitative study on the selection of indicators to measure the wellbeing of young people in South Africa, and reflects on the relevance of the content of their values in choosing indicators for measuring their wellbeing. The data used in this analysis is based on telephone (9) and email (6) interviews conducted with 15 young people (male=5, female=10) aged 22 to 32 from five South African cities during July 2010. In the interviews, participants were asked to identify five issues they considered important to their lives, after which they were asked to rank them in order of importance. The issues indicated by the participants are described and discussed in six dimensions: economic, relationships, spiritual and health, education, time use and material. The indicators developed from this study are discussed in terms of their relevance for use in a measure of youth wellbeing in South Africa.


REVISTA FIMCA ◽  
2018 ◽  
Vol 5 (2) ◽  
pp. 28-31
Author(s):  
Darlan Darlan Sanches Barbosa Alves ◽  
Victor Mouzinho Spinelli ◽  
Marcos Santana Moraes ◽  
Carolina Augusto De Souza ◽  
Rodrigo da Silva Ribeiro ◽  
...  

Introdução: O estado de Rondônia se destaca como tradicional produtor de café, sendo o segundo maior produtor brasileiro de C. canephora. No melhoramento genético de C. canephora, a seleção de plantas de elevada peneira média está associada à bebida de qualidade superior. Objetivos: O objetivo desse estudo foi avaliar a variabilidade genética de clones de C. canephora para o tamanho dos grãos, mensurado a partir da avaliação da peneira média (PM). Materiais e Métodos: Para isso, foi conduzido ao longo de dois anos agrícolas experimento no campo experimental da Embrapa no município de Ouro Preto do Oeste-RO, para a avaliação da peneira média de 130 genótipos (clones) com características das variedades botânicas Conilon, Robusta e híbridos intervarietais. O delineamento experimental utilizado foi de blocos ao acaso, com quatro repetições de quatro plantas por parcela. Resultados: Não houve resultados significativos para a interação clones X anos, indicando uma maior consistência no comportamento das plantas ao longo do tempo. Porém foram observadas diferenças significativas para o tamanho dos grãos entre os genótipos avaliados, possibilitando selecionar genótipos superiores. Conclusão: Os genótipos agruparam-se em cinco classes de acordo com o teste de média, subsidiando a caracterização de um gradiente de variabilidade da característica avaliada ABSTRACTIntroduction: Coffea canephora accounts for approximately 35% of the world's coffee production. The state of Rondônia stands out as a traditional coffee producer, being the second largest Brazilian producer of C. canephora. In the classical genetic improvement of C. anephora, the selection of plants of high average sieve is associated with a drink of superior quality. Objectives: The objective of this udy was to evaluate the genetic variability of Coffea canephora clones for the agronomic medium sieve (PM). Materials and Methods: The experiment was conducted in the experimental field of Embrapa, municipality of OuroPreto do Oeste-RO, located at coordinates 10º44'53 "S and 62º12'57". One hundred thirty genotypes (clones) of botanical characteristics Conilon, Robusta and intervarietal hybrids were evaluated in the agricultural years 2013-2014 and 2014-2015. The experimental design was a randomized block design with four blocks and four plants per plot, spacing 3.5 x 1.5 meters between plants. Results: Significant difference was found for the grain size. According to the F test, at 5% probability, the genotypes were grouped into five classes according to the mean test. Conclusion: The results obtained subsidized the characterization of a variability gradient of the evaluated trait.


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