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[Stress, anxiety and and event related potentials].

Our aim was to study the relationships between stress and anxiety with both psychological and neurophysiological (Events Related Potentials: CNV and P300) methods. The study was divided into 2 parts. In the first part, the research was carried out among 32 out-patients suffering from anxiety disorders (generalized anxiety disorders) according to DSM IV. All of them were drug free and displayed scores higher than 45 on the Spielberger Anxiety State and Trait Scale. They were compared to 40 controls paired in age and sex. The 2 groups displayed a score higher than 200 on the Amiel-Lebigre Life Events scale. In the second part, the control subjects were divided into 2 sub-groups The first one displayed scores higher than 45 (anxious controls) on the Spielberger Anxiety-State Scale while the second one displayed scores lower than 45 (non anxious controls). Two ERPs were recorded, the P300 by using the classical "Oddball" experimental paradigm in auditive modality and the Contingent Negative Variation (CNV) by using a reaction time task with warning stimulus. The results showed not only clear differences between the subjects who suffered from anxiety and the controls but also showed opposite results between anxious out-patients (anxiety disorders) and anxious controls. The non anxious controls were intermediate. While the outpatients showed a decreased P300, the group of anxious control showed an increase of this potential. The first one displayed a CNV/M1 (contingent negativity variation/early part) increase and a longest reaction time, while the second one exhibit an early CNV decrease and normally reaction time. It appears that the stress response expressed itself differently according to the psychological state and the stress situation. The behavioral and neurophysiological data will be discussed in the framework of cognitive, behavioral and psychophysiological theories.

Adult↗
PubMed2001

Recognition of imagined hand movements with low resolution surface Laplacian and linear classifiers.

EEG-based Brain Computer Interfaces (BCIs) require on-line detection of mental states from spontaneous EEG signals. In this framework, it was suggested that EEG patterns can be better detected with EEG data transformed with Surface Laplacian computation (SL) than with the unprocessed raw potentials. However, accurate SL estimates require the use of many EEG electrodes, when local estimation methods are used. Since BCI devices have to use a limited number of electrodes for practical reasons, we investigated the performances of spline methods for SL estimates using a limited number of electrodes (low resolution SL). Recognition of mental activity was attempted on both raw and SL-transformed EEG data from five healthy people performing two mental tasks, namely imagined right and left hand movements. Linear classifiers were used including Signal Space Projection (SSP) and Fisher's linear discriminant. Results showed an acceptable average correlation between the waveforms obtained with the low resolution SL and these obtained with the SL computed from 26 electrodes (full resolution SL). More importantly, satisfactorily recognition scores for mental EEG-patterns were obtained with the low-resolution surface Laplacian transformation of the recorded potentials when compared with those obtained by using full resolution SL (82%). These results demonstrated also the utility of linear classifiers for the detection of mental patterns in the BCI field.

Biomedical Engineering↗
PubMed2001

Association analysis in a variance components framework.

Association analyses conducted in a variance components framework can include information from all available individuals but remain unbiased in the presence of familiality or linkage. Models that include both linkage and association parameters provide different estimates of the effect of a single locus and can be used to distinguish causal polymorphisms from other types of variation. We examine some of these models and their properties in a blind analysis of the simulated Genetic Analysis Workshop 12 data sets.

Chromosome Mapping↗
PubMed1999

A radiation hybrid map of bovine chromosome one.

Radiation hybrid (RH) mapping has proven to be an extremely powerful approach to constructing high density maps of human chromosomes and is experiencing increased use in other animals, including cattle. A 5000 rad bovine whole-genome radiation hybrid panel was recently constructed in order to integrate existing cattle linkage maps with evolutionarily conserved genes and provide high resolution comparative maps relative to humans and mice. We utilized this panel to construct a 19 marker framework map of bovine chromosome 1 (BTA1), which included 8 Type I loci and 11 Type II loci ordered with at least 1000:1 odds. A 35 marker comprehensive map including 15 Type I loci and 20 Type II loci was also produced. Of the 15 Type I loci ordered on the comprehensive map, three are ordered on HSA3 and five are ordered in three blocks on HSA21 on the human cytogenetic maps.

Animals↗
PubMed2026

Men's experiences of multiple long-term conditions and/or disability in the UK Game of Stones weight management trial: a mixed-methods evaluation.

OBJECTIVES: To explore experiences, health outcomes and retention of men with multiple long-term conditions (MLTCs) and/or disability within the Game of Stones weight management randomised controlled trial (RCT). DESIGN: Mixed-methods process evaluation within an RCT where secondary outcomes included the Weight Self-Stigma Questionnaire, EuroQol 5-Dimension 5-Level (EQ-5D-5L), EQ-5D-5L anxiety and depression subscale, Patient Health Questionnaire-4 and retention. Semistructured interviews were conducted at 12 months and analysed using the framework method. SETTING: Conducted across three UK trial centres: Belfast, Bristol and Glasgow. PARTICIPANTS: 585 men with obesity (mean (SD) age, 50.7 (13.3) years) were randomised to one of three groups: behavioural text messages with financial incentives, texts alone or waiting-list control. Interviews were conducted with 54 participants from the two intervention groups. RESULTS: 235 (40%) participants lived with MLTCs, 181 (31%) had a single condition, 167 (29%) had no conditions and 165 (29%) had a disability. Of those with MLTCs, 99 were disabled and 93 were living in deprived areas. Participants with MLTCs and/or disability were older, fewer had a degree-level qualification and fewer were in full-time work. Retention at 12 months was higher for men with disability (76%) or no long-term conditions (75%) and lower for men with diabetes (65%). Self-reported weight stigma, well-being and quality-of-life scores improved or stayed the same for men living with MLTCs in the intervention groups; however, results for anxiety and depression screening scores were inconsistent. Participant experiences indicated complex dynamic health, social and life situations which could provide motivation to lose weight for some but not others. Hospitalisation and poor mobility, with inability to exercise, were demotivating for making changes to reach weight loss targets. CONCLUSIONS: Men living with MLTCs and/or disability varied from very successful weight loss and improved health to not prioritising or feeling helped by the programme or disengagement due to immobility or diabetes. TRIAL REGISTRATION NUMBER: isrctn.org Identifier: ISRCTN91974895.

Humans↗
PubMed1992

Behavioral momentum in college basketball.

Three classes of events were scored from videotapes of 14 college basketball games during the 1989 National Collegiate Athletic Association tournament: reinforcers (such as points and favorable turnovers), adversities (such as missed shots, unfavorable turnovers, and fouls), and responses to adversities (favorable or unfavorable outcomes of the first possession of the ball following an adversity). Within-game and within-team analyses of these data supported three findings. First, a team's favorable response to an adversity generally increased as the rate of reinforcement increased 3 min preceding the adversity. Second, basketball coaches called time-out from play when being outscored by their opponents an average of 2.63 to 1.0. Third, calling time-outs from play appeared to be an effective intervention for reducing an opponent's rate of reinforcement. Rates of reinforcement during the 3 min immediately after a time-out were nearly equal for both teams. Results are discussed within a behavioral momentum framework.

Journal Article↗
PubMed1996

[Predictors of regular physical activity in participants in a Canadian health promotion program].

A series of predisposing and facilitating factors were examined to determine their contribution to the adoption of regular physical activity. The original longitudinal study Healthstyles was a comparative, before and after design, in which the participants (N = 640) were involved for 18 months in a multibehaviour health promotion program. The theoretical framework of Green, Kreuter, Deeps, and Partridge (1980) used for this study, the PRECEDE Model, reveals the role of three categories of factors at different levels of influence. In a correlational study, the sedentary subjects (N = 377) of a secondary analysis of data, were classified at the end of the program according to two behavioral status: adoption or non-adoption of regular physical activity. The nature of the study, the results of the preliminary analysis and the testing of the hypothesis, required a multivariate analysis approach. The logistic regression technique was used to differentiate between the adopters and the non-adopters. The results regarding the role of the combined predisposing and facilitating factors, show that only some of the predisposing factors predicts the adoption of regular physical activity. The adopters are relatively younger (OR = 0.48) males (OR = 1.7) with good or excellent self-evaluated health (OR = 0.51) and with a high score at the onset of the program, on the internal locus of control scale (OR = 1.8). Moreover, they are not different from the non-adopters in their need for external support in the change process. The impact of these results has been examined in terms of target groups and of content and approaches for future health promotion programs and research.

Adolescent↗
PubMed1987

What learning-disabled readers fail to retrieve on verbal dichotic tests: a problem of encoding, retrieval, or storage?

Three theoretical models were assessed as a framework for capturing learning-disabled readers' faulty word retrieval. To this end, learning-disabled and skilled readers were compared on verbal dichotic listening tasks for free recall and cued recall of word lists organized by semantic, phonemic, and structural features. The results indicated that disabled readers were comparable on free recall but were inferior to skilled readers on cued recall. No ability group differences were found for categorical and noncategorical recall intrusions during the cued recall phase. Cued recall performance was further analyzed for individual differences in memory trace structure (via the Tulving & Watkins, 1975, reduction method), ear asymmetry, and the allocation of attention to word features prior to cuing. Results indicated that during the cued recall phase, disabled readers' memory traces were inferior in structure to those of skilled readers, even though the two ability groups produced comparable symmetrical recall patterns for the ear presentations. Further, disabled readers had lower selective attention scores for the interhemispheric processing of information prior to cuing than did skilled readers. Taken together, the results suggest that, prior to cued recall, disabled readers suffer from attentional difficulties during interhemispheric processing, which in turn influences the structural formation of their memory trace.

Child↗
PubMed2026

Osteoarthritis Year in Review 2026: Genetics, genomics and epigenetics.

OBJECTIVE: The purpose of this narrative review is to highlight advances made over the past 12 months in the field of osteoarthritis (OA) genetics, genomics and epigenomics, with a particular focus on the interpretation of OA risk loci through functional genomic and regulatory approaches. DESIGN: PubMed and Europe PMC were searched to identify studies relevant to OA genetics, genomics and epigenomics published between 1st March 2025 and 30th April 2026. Searches used combinations of terms relating to genetics, genomics, epigenomics, functional genomics, molecular quantitative trait loci, chromatin accessibility and enhancer biology. Studies were limited to human subjects and English-language publications, with additional articles identified through citation screening and expert knowledge of the field. RESULTS: Over the past year, the field has continued to transition from large-scale locus discovery towards biological interpretation of OA genetic risk. Major advances included the largest OA genome-wide association study to date, further development of polygenic risk score approaches, and increasing integration of molecular quantitative trait loci, chromatin accessibility, and enhancer biology datasets to prioritise effector genes and elucidate regulatory mechanisms. Several studies highlighted the highly context-dependent nature of OA genetic risk mechanisms, demonstrating that distinct tissues, cell types, and regulatory layers can identify different candidate effector genes at the same locus. Additional developments included increasing application of singlecell and multi-omic technologies to study OA-relevant tissues. CONCLUSION: Recent advances in OA genetics have shifted the field from locus discovery towards mechanistic interpretation. Emerging evidence demonstrates that the biological consequences of genetic variation are highly dependent upon tissue, cell state and disease context, with different functional genomic approaches often prioritising distinct candidate genes and regulatory mechanisms at the same susceptibility locus. Together, these findings suggest that OA risk loci should increasingly be viewed as dynamic regulatory systems rather than simple variant-to-gene relationships, providing a framework for future studies aimed at resolving causal mechanisms, defining disease endotypes, and identifying therapeutic targets.

Genetics↗
PubMed2001

Indications for pelvic lymphadenectomy in prostate cancer.

Clearly, pelvic lymphadenectomy can provide important staging information in the management of prostate cancer, but this benefit is counterbalanced by a modest increase in morbidity and the significant cost of the procedure. It is difficult to provide universal recommendations concerning the indications for pelvic lymphadenectomy. Part of the problem lies in the fact that urologists perform pelvic lymphadenectomy for several different reasons. Some surgeons perform pelvic lymphadenectomy to better counsel patients after radical prostatectomy about their risk for disease progression and for planning adjuvant radiotherapy or hormonal therapy. For these surgeons, preoperative clinical staging parameters do not exclude patients from pelvic lymphadenectomy, and frozen section analysis intraoperatively provides no useful information. Alternatively, the staging information from pelvic lymphadenectomy can be used to justify cancellation of the subsequent prostatectomy should regional spread of prostate cancer be identified, sparing the patient the morbidity of an unnecessary radical prostatectomy. With this approach, despite the false-negative rate of up to 30%, the expense of frozen section analysis seems justified. For this second group of surgeons, the problem becomes balancing the modest morbidity and cost of pelvic lymphadenectomy against the probability that nodal spread of prostate cancer will be missed if the procedure is omitted. The authors consider a greater than 4% risk for missing regional disease to be unacceptable in this setting. Following this assumption, Table 3 outlines parameters for clinical stage, Gleason score, and preoperative PSA within which pelvic lymphadenectomy is indicated. These recommendations are based on [table: see text] predictions from the Partin nomogram, which has been validated using a series of over 4000 patients. For the large number of patients with clinical T1c disease and a preoperative PSA less than 10 ng/mL, bilateral pelvic lymphadenectomy is indicated only if prostate biopsy identifies tumor of Gleason grade 4 or higher. For lower-grade tumors in this patient population, the risk for nodal metastasis was less than 5% in the Johns Hopkins and Mayo Clinic series of over 5800 patients with prostate cancer. For a large pool of patients, the several thousand dollar cost of pelvic lymphadenectomy and the risk for injury to the obturator nerves and vessels, the formation of lymphoceles, and chronic genital edema can be eliminated with low risk. A nomogram-based approach provides only a starting point for a decision analysis framework to determine whether the surgeon should perform lymphadenectomy at the time of radical prostatectomy because current nomograms predict only lymph node positivity. In a decision analysis framework, some patient and physician value is derived from a negative lymphadenectomy. Moreover, the morbidity associated with pelvic lymphadenectomy and the potential inconvenience associated with treating such morbidity also would be factored into the decision. Consequently, a decision analysis framework that takes into account prognostic value, costs, morbidity, and health state uses ultimately will provide the most informative method for determining when pelvic lymphadenectomy is indicated in patients with prostate cancer.

Frozen Sections↗
PubMed1999

The impact of type 2 diabetes mellitus on daily functioning.

BACKGROUND: Traditionally, health and the outcomes of medical treatment have been measured in terms of morbidity, incidence or prevalence of disease, or even mortality. This disease model provides an adequate framework for acute illnesses, but for chronic diseases, severity and their effect on everyday functioning are paramount. For chronic diseases, functional health status, as a vital part of quality of life, is now recognized as an important outcome measure of the GP's care. OBJECTIVE: We aimed to assess the impact of type 2 diabetes mellitus on functional health status in Dutch general practice. METHOD: We conducted a cross-sectional study of the functional health status of all patients with type 2 diabetes mellitus under 85 in two general practices, using the Sickness Impact Profile (SIP) and the COOP/WONCA charts. A control group of non-diabetic patients was selected, matched for practice, sex and age. RESULTS: In total, 127 type 2 diabetes mellitus patients and 127 controls participated in the study, the responses being 78 and 70%, respectively. Between these groups the following were significantly different: the SIP subscore Physical, the SIP sum score and the COOP/WONCA scores for physical fitness and overall health. Type 2 diabetes mellitus patients were 2.46 (95% CI 1.5-4.1) times more likely to experience functional impairment. Cardiovascular morbidity (odds ratio 2.5, 95% CI 1.3-4.7), locomotory morbidity (odds ratio 2.6, 95% CI 1.4-5.1) and diabetes itself (odds ratio 1.4, 95% CI 1.1-1.9) were significantly associated with the presence of functional impairment. CONCLUSION: This study demonstrates the impact of type 2 diabetes mellitus on functional status, particularly in relation to cardiovascular morbidity.

Activities of Daily Living↗
PubMed2026

UFold-X: an enhanced Dual & Dynamic U-Mamba model for long-range RNA secondary structure prediction.

RNA secondary structure is essential for understanding the functions of non-coding RNAs, ribosomal RNAs, and viral genomes. However, accurate prediction of long RNA structures remains challenging due to complex long-range interactions and the limited availability of long-RNA training data. We present UFold-X, a dual-branch deep learning framework that combines a convolutional encoder for local structure modeling with a Mamba-based Visual State Space Module for capturing long-range dependencies. A dynamic gating mechanism adaptively integrates the two branches according to sequence length. UFold-X was evaluated on multiple benchmark datasets containing RNAs up to 5000 nucleotides. To rigorously assess generalization, we introduced a cross-clan benchmark for long RNAs. Under this stringent setting, UFold-X achieved performance comparable to state-of-the-art classical approaches while achieving the best performance among deep learning-based methods. Additional cross-family and within-family evaluations further demonstrated robust transferability and competitive predictive performance. UFold-X also maintained excellent computational efficiency, requiring only 0.08 s per sequence on average. To assess biological consistency, we developed a SHAPE-based reactivity prediction variant (UFold-X-R) and an integrated metric, the Hybrid Reactivity-Pairing Score (HRPS). UFold-X-R showed strong agreement with experimental icSHAPE data and achieved the highest HRPS among all evaluated methods. A user-friendly web server is available at https://ufold-x.ai4bread.com.

Nucleic Acid Conformation↗
PubMed2001

A confirmatory factor analysis of the cognitive capacity screening examination in a clinical sample.

Structured mental status examinations offer several advantages over unstructured mental status examinations; however, few have been subjected to advanced psychometric analysis. Confirmatory factor analysis empirically tests the predictive validity of individual test indices within an a priori methodological framework. With such analysis, one can test hypotheses about the structure of latent variability within a given data set. The purpose of this study was to perform a confirmatory factor analysis of the Cognitive Capacity Screening Examination, the most comprehensive of the brief structured mental status examinations. A confirmatory factor analysis of the Cognitive Capacity Screening Examination (CCSE) was performed by applying LISREL 7 to a sample of 924 male veterans, 409 patients from a chemical dependence treatment program, and 515 individuals from a psychology consultation service. Constructs were derived from previous exploratory analysis of the scale. The results of the confirmatory factor analysis and three indices of model fit support an 11 factor model more complex than that originally formulated for the CCSE. However, three of these factors (digit span with interference, complex mental mathematics, and verbal memory) were more sensitive to impairment than other factors, accounting for over 90% of the CCSE total score variance. Although the CCSE is a more complex test than originally envisioned by its designers, it may not be necessary to give all items on the test. Either a subset of the CCSE items (the CCSE-A) or a relatively brief, informal mental status exam may be adequate for many patients.

Cognition Disorders↗
PubMed1998

Prosthesis evaluation questionnaire for persons with lower limb amputations: assessing prosthesis-related quality of life.

OBJECTIVE: To develop a self-report questionnaire for persons with lower limb amputations who use a prosthesis. The resulting scales were intended to be suitable to evaluate the prosthesis and life with the prosthesis. The conceptual framework was health-related quality of life. DESIGN: Multiple steps of scale development, terminating with test-retest of the Prosthesis Evaluation Questionnaire (PEQ) by mail. SOURCE OF SAMPLE: Records from two Seattle hospitals. PATIENTS: Ninety-two patients with lower limb amputations who varied by age, reason for amputation, years since amputation, and amputation level. MAIN OUTCOME MEASURES: The 10 scales used were 4 prosthesis function scales (Usefulness, Residual Limb Health, Appearance, and Sounds), 2 mobility scales (Ambulation and Transfers), 3 psychosocial scales (Perceived Responses, Frustration, and Social Burden), and 1 Well-being scale. Validation measures were the Medical Outcomes Study Short Form-36, the Social Interaction subscale from the Sickness Impact Profile, and the Profile of Mood States-short form. RESULTS: Nine PEQ scales demonstrated high internal consistency. All met test-retest criteria for comparing group results. Validity was described based on methods used to gather original items, distribution of scores, and comparison of scores with criterion variables. CONCLUSIONS: The PEQ scales displayed good psychometric properties. Future work will assess responsiveness of PEQ scales to changes in prosthetic components. We conclude that they will be useful in evaluation of prosthetic care.

Activities of Daily Living↗
PubMed2000

Assessing retinal function with the multifocal technique.

With the multifocal technique, as developed by Erich Sutter and colleagues, scores of focal electroretinogram (ERG) responses can be obtained in a matter of minutes. Although this technique is relatively new, it has already provided insights into the mechanisms of retinal disease. However, because it is new, there also remain questions about how it works and what it measures. This chapter considers some of these insights and some of these questions. The first part (Section 2) describes how the multifocal ERG (mERG) is recorded and considers its relationship to the full-field ERG. The mERG responses are shown to be from relatively local regions of the retina and are comprised of the same components as the full-field ERG. The diagnostic advantage of the mERG as compared to the full-field ERG is also illustrated. In Section 3, the effects of damage to different cell layers of the retina are shown to affect the mERG differently, and these changes are summarized within a conceptual framework. It is argued, for example, that when diseases of the receptor outer segment, like retinitis pigmentosa, result in small, depressed mERG responses, then the damage is, as expected, at the outer segment. However, when these diseases result in mERG responses that are reasonably large but very delayed, then the damage is beyond the outer segment, probably in the outer plexiform layer. The implicit time of the mERG, not amplitude, is the more sensitive measure of damage in degenerative diseases of the receptors. On the other hand, diseases, like glaucoma, which act on the ganglion axon, do not result in easily identified changes to the mERG unless inner retinal damage is involved as well. Inner retinal damage changes the waveform of the mERG and decreases the naso-temporal variation normally observed. Finally, diseases, like diabetes, that act on more than one layer of the retina can have a range of effects. In Section 4, recent work with the monkey mERG is reviewed, with emphasis on the relevance to human diseases. For example, blocking the sodium-based action potentials produced by ganglion and amacrine cells eliminates the naso-temporal variation in the monkey mERG and these altered mERG responses resemble those from some patients with diabetes or glaucoma. Finally, in Section 5 the second-order kernel is described. The presence of a second-order kernel has important implications for understanding the shape of the mERG response (first-order kernel). Full-field simulations of the mERG paradigm illustrate that the first-order kernel is comprised of responses with different waveforms. Further, it is argued that the nonlinear, adaptive mechanisms that produce the second-order kernel are involved in shaping the time course of the response. Patients with large, but abnormally delayed mERG responses (first-order kernel), do not have a detectable second-order kernel. It is speculated that a markedly diminished second-order kernel is diagnostic of outer plexiform layer damage, not inner plexiform layer damage as is commonly assumed.

Animals↗
PubMed1997

[Deficit of explicit memory in Parkinson's disease demonstrated by auditory-verbal and visual-design learning tasks].

This study is concerned with explicit memory in both auditory and visual modalities in patients with non-demented(on DSM-III-R) Parkinson's disease. On some explicit memory studies, Parkinsonian patients were compared with normal controls matched for age and education. For assessment of recollection, recall and recognition were assessed using two clinical test batteries, Rey's Auditory-Verbal Learning Test and Rey's Visual-Design Learning Test. In addition to a comparison of recall and recognition, the present research inquired into the serial position data in free recall, analysis by applying a signal detection theory to the recognition data, and metamemory by using self-assessment of recognition. The results showed that the Parkinsonian group was significantly impaired on both tests of free recall compared to the normal controls. By contrast, when given tests of recognition memory for the same lists, their performance was almost identical only in assessment of correct scores(hits). There was a significant correlations between performances on achieved categories of the Wisconsin Card Sorting Test and on free recalls of the auditory-verbal learning test in the patient group. In recall, no qualitative differences of the serial position curves were observed between the two groups, as an increasing pattern of primacy and recency effect was preserved. In addition, the two groups performed equally well on both auditory (digit span) and visual(spatial span) short-term memory assessment. Moreover, on the trial-recall curves, from the first trial to the last two groups showed no significant differences in their learning effect and forgetting. Irrespective of modalities, however, the Parkinsonian group recalled less than the controls in the first trials. The poor performance of recall in the patients could be explained in terms of diminished attentional resources of the central executive system processing information beyond their short-term memory span within the framework of Baddeley's model of working memory which simultaneously controls two functions of encoding and retention. It was suggested that diminished central resources would be strongly associated with basal frontal dysfunction in Parkinson's disease. When recognition memory was further investigated, false alarms but not misses significantly increased despite normal hits in the patients on both tests. Analysis by using a signal detection theory produced significant differences, in that the Parkinsonian patients had lower values of beta and d' on auditory-verbal learning while they had lower tendency of beta on visual-design. The trend that they fell into errors by recognizing a distracter as the target presented previously was likely to be related a dysfunction of the supervisory system of Norman and Shallice's model which was assumed to be in the prefrontal cortex. Moreover, the present research disclosed that metamemory, i.e. the ability to assess their own memory, was disturbed in the Parkinsonian patients. In addition to the problem of recognition mentioned above, it was suggested that the impaired metamemory could be attributed to a deterioration of frontal lobe function.

Female↗
PubMed2002

Testing for genetic linkage in families by a variance-components approach in the presence of genomic imprinting.

Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recently developed model for testing of linkage, in the presence of genetic imprinting, between a quantitative-trait locus and a polymorphic marker; this is achieved in the variance-components framework. We also incorporate sex-specific recombination fractions into this model. We discuss the effects that imprinting and nonimprinting have on the power of the usual variance-components method and on the variance-components method that incorporates an imprinting parameter. We provide noncentrality parameters that can be used to determine the sample size necessary to attain a specified power for a given significance level, which is useful in the planning of a linkage study. Optimal strategies for a genome scan of potentially imprinted traits are discussed.

Alleles↗
PubMed2006

Genetic segregation of microsatellite markers in Saccharum officinarum and S. spontaneum.

Genetic mapping techniques can be used to study the interaction between two different genomes after hybridization. This study investigated a Saccharum officinarum (Green German or GG, 2n approximately 11x approximately 110) x S. spontaneum (IND 81-146 or IND, 2n approximately 7x approximately 56) interspecific cross. Segregation of 193 microsatellite (SSR) loci was evaluated in the F(1) progeny of 169 full-sibs of the cross. Following the two-way pseudo-testcross strategy and 'cross pollination' population type, linkage groups (LG) and phases were established for each parent map, using the criteria of LOD score > or = 3.0 and a maximum recombination frequency of 0.35. Of the 193 markers analyzed, 61 were IND-specific, 106 were GG-specific, and 26 were heterozygous in both parents. About 78% of the markers segregated in a Mendelian fashion and 22% were distorted (as evaluated by chi(2)-tests, P < or = 0.01). The GG map included 91 marker loci arranged into 25 LG covering 1180 cM of the officinarum genome. The IND map consisted of 46 marker loci assembled into 10 LG, which spanned 614 cM of the spontaneum genome. A specific chromosome associated with segregation distortion was detected in the female (GG) genome only, probably as a result of double reduction. The segregation patterns of the marker loci indicated a centromere-driven distortion process with the shared allelic markers (as putative centromeres) regulating the placement and association of markers with opposite phase (coupling vs repulsion) and dosage on either side. Although incomplete, the framework maps were informative with respect to segregation distortion, chromosome fusion, rearrangements, and translocations, observed in both parental genomes as a result of their merger.

Chromosome Mapping↗