25 resultados para hgprt locus
em University of Queensland eSpace - Australia
Resumo:
A major locus conferring resistance to the causal organism of powdery mildew, Erysiphe polygoni DC,, in mungbean (Vigna radiata L. Wilczek) was identified using QTL analysis with a population of 147 recombinant inbred individuals. The population was derived from a cross between 'Berken', a highly susceptible variety, and ATF 3640, a highly resistant line. To test for response to powdery mildew, F-7 and F-8 lines were inoculated by dispersing decaying mungbean leaves with residual conidia of E. polygoni amongst the young plants to create an artificial epidemic and assayed in a glasshouse facility. To generate a linkage map, 322 RFLP clones were tested against the two parents and 51 of these were selected to screen the mapping population. The 51 probes generated 52 mapped loci, which were used to construct a linkage map spanning 350 cM of the mungbean genome over 10 linkage groups. Using these markers, a single locus was identified that explained up to a maximum of 86% of the total variation in the resistance response to the pathogen.
Resumo:
CD4-CD8 ratio is an important diagnostic measure of immune system functioning. In particular, CD4-CD8 ratio predicts the time taken for progression of HIV infection to acquired immune deficiency syndrome (AIDS) and the long-term survival of AIDS patients. To map genes that regulate differences between healthy individuals in CD4-CD8 ratio, we typed 757 highly polymorphic microsatellite markers at an average spacing of similar to5 cM across the genome in 405 pairs of dizygotic twins at ages 12, 14 and 16. We used multipoint variance components linkage analysis to test for linkage between marker loci and CD4-CD8 ratio at each age. We found suggestive evidence of linkage on chromosome 11p in 12-year-old twins (LOD=2.55, P=0.00031) and even stronger evidence of linkage in the same region at age 14 (LOD 3.51, P=0.00003). Possible candidate genes include CD5 and CD6, which encode cell membrane proteins involved in the positive selection of thymocytes. We also found suggestive evidence of linkage at other areas of the genome including regions on chromosomes 1, 3, 4, 5, 6, 12, 13, 15, 17 and 22.
Resumo:
The cellular function of the menin tumor suppressor protein, product of the MEN1 gene mutated in familial multiple endocrine neoplasia type 1, has not been defined. We now show that menin is associated with a histone methyltransferase complex containing two trithorax family proteins, MLL2 and Ash2L, and other homologs of the yeast Set1 assembly. This menin-associated complex methylates histone H3 on lysine 4. A subset of tumor-derived menin mutants lacks the associated histone methyltransferase activity. In addition, menin is associated with RNA polymerase II whose large subunit carboxyl-terminal domain is phosphorylated on Ser5. Men1 knockout embryos and cells show decreased expression of the homeobox genes Hoxc6 and Hoxc8. Chromatin immunoprecipitation experiments reveal that menin is bound to the Hoxc8 locus. These results suggest that menin activates the transcription of differentiation-regulating genes by covalent histone modification, and that this activity is related to tumor suppression by MEN1.
Resumo:
Background: Eosinophils are granulocytic white blood cells implicated in asthma and atopic disease. The degree of eosinophilia in the blood of patients with asthma correlates with the severity of asthmatic symptoms. Quantitative trait loci (QTL) linkage analysis of eosinophil count may be a more powerful strategy of mapping genes involved in asthma than linkage analysis using affected relative pairs. 1 Objective: To identify QTLs responsible for variation in eosinophil count in adolescent twins. Methods: We measured eosinophil count longitudinally in 738 pairs of twins at 12, 14, and 16 years of age. We typed 757 highly polymorphic microsatellite markers at an average spacing of similar to5 centimorgans across the genome. We then used multipoint variance components linkage analysis to test for linkage between marker loci and eosinophil concentrations at each age across the genome. Results: We found highly significant linkage on chromosome 2q33 in 12-year-old twins (logarithm of the odds = 4.6; P = .000002) and suggestive evidence of linkage in the same region in 14-year-olds (logarithm of the odds = 1.0; P = .016). We also found suggestive evidence of linkage at other areas of the genome, including regions on chromosomes 2, 3, 4, 8, 9, 11, 12, 17, 20, and 22. Conclusion: A QTL for eosinophil count is present on chromosome 2q33. This QTL might represent a gene involved in asthma pathophysiology.
Resumo:
A belief that doctors or family control one's health outcomes (external health locus of control), and a belief in one's own ability to achieve desired outcomes (general self-efficacy), may influence distress experienced in relation to a physical illness. This study examined the interaction between illness severity, external health locus of control and general self-efficacy in relation to distress. Illness severity was defined as acute or chronic illness, with the latter expected to be more stressful. Participants described a serious illness they experienced, and completed self-report scales in relation to it. Results confirmed that chronic illnesses were associated with more distress than acute illnesses across the sample. Hierarchical multiple regression analyses supported the predicted effects on distress of a three-way interaction involving external health locus of control, general self-efficacy and illness severity (acute vs. chronic). Analysis of these results may assist in explaining inconsistencies in previous research, and offer a model for understanding the role of person variables in emotional distress.
Resumo:
An emerging public health phenomenon is the increasing incidence of methicillin-resistant Staphylococcus aureus (MRSA) infections that are acquired outside of health care facilities. One lineage of community-acquired MRSA (CA-MRSA) is known as the Western Samoan phage pattern (WSPP) clone. The central aim of this study was to develop an efficient genotyping procedure for the identification of WSPP isolates. The approach taken was to make use of the highly variable region downstream of mecA in combination with a single nucleotide polymorphism (SNP) defined by the S. aureus multilocus sequence typing (MLST) database. The premise was that a combinatorial genotyping method that interrogated both a highly variable region and the genomic backbone would deliver a high degree of informative power relative to the number of genetic polymorphisms-interrogated. Thirty-five MRSA isolates were used for this study, and their gene contents and order downstream of mecA were determined. The CA-MRSA isolates were found to contain a truncated mecA downstream region consisting of mecA-HVR-IS431 mec-dcs-Ins117, and a PCR-based method for identifying this structure was developed. The hospital-acquired isolates were found to contain eight different mecA downstream regions, three of which were novel. The Minimum SNPs computer software program was used to mine the S. aureus MLST database, and the arcC 2726 polymorph was identified as 82% discriminatory for ST-30. A real-time PCR assay was developed to interrogate this SNP. We found that the assay for the truncated mecA downstream region in combination with the interrogation of arcC position 272 provided an unambiguous identification of WSPP isolates.
Resumo:
Bacterial artificial chromosome (BAC) libraries have been widely used in different aspects of genome research. In this paper we report the construction of the first mungbean (Vigna radiata L. Wilczek) BAC libraries. These BAC clones were obtained from two ligations and represent an estimated 3.5 genome equivalents. This correlated well with the screening of nine random single-copy restriction fragment length polymorphism probes, which detected on average three BACs each. These mungbean clones were successfully used in the development of two PCR-based markers linked closely with a major locus conditioning bruchid (Callosobruchus chinesis) resistance. These markers will be invaluable in facilitating the introgression of bruchid resistance into breeding programmes as well as the further characterisation of the resistance locus.
Resumo:
Introduction: There is currently a need for research into indicators that could be used by non-clinical professionals working with young people, to inform the need for referral for further clinical assessment of those at risk of suicide. Method: Participants of this repeated measures longitudinal study, were 2603, 2485, and 2246 school students aged 13, 14, and 15, respectively, from 27 South Australian Schools. Results: Perceived academic performance, self-esteem and locus of control are significantly associated with suicidality. Further, logistic regression of longitudinal results suggests that perceived academic performance, over and above self-esteem and locus of control, in some instances, is a good long-term predictor of suicidality. (C) 2004 Published by Elsevier Ltd. on behalf of The Association for Professionals in Services for Adolescents.
Resumo:
Type 1 diabetes (TID) susceptibility locus, IDDM8, has been accurately mapped to 200 kilobases at the terminal end of chromosome 6q27. This is within the region which harbours a cluster of three genes encoding proteasome subunit beta 1 (PMSB1), TATA-box binding protein (TBP) and a homologue of mouse programming cell death activator 2 (PDCD2). In this study, we evaluated whether these genes contribute to TID susceptibility using the transmission disequilibrium test of the data set from 114 affected Russian simplex families. The A allele of the G/A1180 single nucleotide polymorphism (SNP) at the PDCD2 gene, which was significant in its preferential transfer from parents to diabetic children (75 transmissions vs. 47 non-transmissionS, x(2) = 12.85, P corrected = 0.0038), was found to be associated with T1D. G/A1180 dimorphism and two other SNPs, C/T771 TBP and G/T(-271) PDCD2, were shown to share three common haplotypes, two of which (A-T-G and A-T-T) have been associated with higher development risk of TID. The third haplotype (G-T-G) was related to having a lower risk of disease. These findings suggest that the PDCD2 gene is a likely susceptibility gene for TID within IDDM8. However, it was not possible to exclude the TBP gene from being another putative susceptibility gene in this region. (c) 2005 Elsevier Ltd. All rights reserved.
Resumo:
Small groups of athletes (maximum size 8) were taught to voluntarily control their finger temperature, in a test of the feasibility of thermal biofeedback as a tool for coaches. The objective was to decrease precompetitive anxiety among the 140 young, competitive athletes (track and field, N=61; swimming, N=79), 66 females and 74 males, mean age 14.8 years, age range 8.9-20.5 years, from local high schools and swimming clubs. The biofeedback (visual and auditory) was provided by small, battery-powered devices that were connected to thermistors attached to the middle finger of the dominant hand. An easily readable digital LCD display, in 0.01 degrees C increments, provided visual feedback, while a musical tone, which descended in pitch with increased finger temperature, provided the audio component via small headphones. Eight twenty minute sessions were scheduled, with 48 hours between sessions. The measures employed in this prestest-posttest study were Levenson's locus of control scale (IPC), and the Competitive Sport Anxiety Inventory (CSAI-2). The results indicated that, while significant control of finger temperature was achieved, F(1, 160)=5.30, p
Resumo:
Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite 150 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families ( 931 from an Australian group and 245 from a U. K. group), each with at least two members-mainly affected sister pairs-with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 ( maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 MLS p 2.09). Minor peaks with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.
Resumo:
The relationship between locus of control, the quality of exchanges between subordinates and leaders (LMX), and a variety of work-related reactions (intrinsic/extrinsic job satisfaction, work-related well-being, and organizational commitment) are examined. It was predicted that people with an internal locus of control develop better quality relations with their manager and this, in turn, results in more favourable work-related reactions. Results from two different samples (N = 404, and N = 51) supported this prediction, and also showed that LMX either fully, or partially, mediated the relationship between locus of control and all the work-related reactions.
Resumo:
Objective. To explore the relationship between measures of self-efficacy, health locus of control, health status and direct medical expenditure among community-dwelling subjects with rheumatoid arthritis (RA) and osteoarthritis (OA). Methods. This analysis is part of a larger ongoing study of the costs and outcomes of arthritis and its treatments. Community-dwelling RA and OA respondents completed questionnaires concerning arthritis-related expenditure, health status, arthritis related self-efficacy and health locus of control. Results. Data were obtained from 70 RA respondents and 223 OA respondents. The majority of respondents were female with a mean age of 63 yr for RA respondents and 68 yr for OA respondents. Among the RA respondents, those with higher self-efficacy reported better health status and lower overall costs. Health locus of control was not consistently correlated with health status. OA respondents with higher self-efficacy reported better health status and lower costs. Health locus of control had more influence. OA respondents with higher external locus of control reported worse pain and function. A higher belief in chance as a determinant of health was correlated with more visits to general practitioners and a higher cost to both the respondent and the health system. Conclusion. Higher self-efficacy, which is amenable to change through education programmes, was associated with better health status and lower costs to the respondent and the health system in this cross-sectional study. Locus of control had less of an influence; however, the tendency was for those with higher external locus of control to have higher costs and worse health status. As the measurement of these constructs is simple and the outcome potentially affects health status, these results have implications for future intervention studies to improve quality of life and reduce the financial impact of arthritis on both the health-care system and patients.