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Genetic Assessment (genetic + assessment)
Selected AbstractsNeural connectivity as an intermediate phenotype: Brain networks under genetic controlHUMAN BRAIN MAPPING, Issue 7 2009Andreas Meyer-Lindenberg Abstract Recent evidence suggests that default mode connectivity characterizes neural states that account for a sizable proportion of brain activity and energy expenditure, and therefore represent a plausible neural intermediate phenotype. This implies the possibility of genetic control over systems-level connectivity features. Imaging genetics is an approach to combine genetic assessment with multimodal neuroimaging to discover neural systems linked to genetic abnormalities or variation. In the present contribution, we report results obtained from applying this strategy to both structural connectivity and functional connectivity data. Using data for serotonergic (5-HTTLPR, MAO-A) and dopaminergic (DARPP-32) genes as examples, we show that systems-level connectivity networks under genetic control can be identified. Remarkable similarities are observed across modalities and scales of description. Features of connectivity often better account for behavioral effects of genetic variation than regional parameters of activation or structure. These data provide convergent evidence for genetic control in humans over connectivity systems, whose characterization has promise for identifying neural systems mediating genetic risk for complex human behavior and psychiatric disease. Hum Brain Mapp, 2009. © 2009 Wiley-Liss, Inc. [source] Genetic divergence between sympatric Arctic charr Salvelinus alpinus morphs in Gander Lake, Newfoundland: roles of migration, mutation and unequal effective population sizesJOURNAL OF FISH BIOLOGY, Issue 8 2008D. Gomez-Uchida A suite of 10 microsatellite loci was used to examine genetic divergence between two sympatric morphs of Arctic charr Salvelinus alpinus (,dark' and ,pale') inhabiting Gander Lake, Newfoundland. Results can be summarized as follows: (1) the morphs are strongly reproductively isolated , gene flow,migration estimates were consistently low in long and short-term evolutionary timescales of analysis; (2) intermorph divergence based on allele size (RST) was significantly larger than those based on allele state (,) implying a cumulative effect of stepwise-like mutations; (3) historical (coalescent) and current (linkage disequilibrium) point estimates of effective population size (Ne) were consistently higher for dark than for pale S. alpinus. The first and second findings lend support to the hypothesis that divergence between forms may have preceded the last glacial period (ending c. 12 000 years bp). The third finding argues for significant differences in habitat quantity and quality between morphs, which were emphasized in a previous study. Overall, these analyses underscore the importance of genetic assessment and monitoring in the conservation of fish diversity, with emphasis on ,rare' or under-represented forms among temperate species pairs. [source] A genetic assessment of parentage in a natural population of dollar sunfish (Lepomis marginatus) based on microsatellite markersMOLECULAR ECOLOGY, Issue 9 2002M. MacKiewicz Abstract We employ microsatellite markers to assess mating tactics in Lepomis marginatus. Genetic assignments for 1015 progeny in 23 nests indicate that about 95% of the offspring were sired by their respective nest-guardians, a finding consistent with the apparent absence of a brood parasitic morphotype in this species. Allopaternal care was documented in two nests, one resulting from a nest takeover, the other from cuckoldry by an adjoining nest-tender. Clustered de novo mutations also were identified. About 2.5 females (range 1,7) contributed to the offspring pool within a typical nest. Results are compared to those for other Lepomis species. [source] Selecting patients with young-onset colorectal cancer for mismatch repair gene analysis,BRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 12 2007M. Walker Background: Young patients with colorectal cancer are at increased risk of carrying a germline mutation in mismatch repair (MMR) genes. This study investigated the role of clinical criteria and immunohistochemistry for MMR proteins in selecting young patients for mutation testing. Methods: A cohort of 56 consecutive patients with colorectal cancer aged less than 45 years were stratified into three groups based on clinical criteria: ,Amsterdam criteria', ,high risk' and ,young onset only'. Immunohistochemistry for four MMR proteins was carried out and the rate of compliance with clinical guidelines determined. Results: Tumours from 11 patients (20 per cent) had abnormal MMR protein expression, of whom eight were referred for genetic assessment. Of 21 patients (38 per cent) in total referred to the genetics unit, six MMR gene mutations were identified, all associated with abnormal immunohistochemistry. Conclusion: MMR immunohistochemistry should be considered routine in young-onset colorectal cancer. Copyright © 2007 British Journal of Surgery Society Ltd. Published by John Wiley & Sons, Ltd. [source] Cross-amplification of 10 new isolated polymorphic microsatellite loci for red mullet (Mullus barbatus) in striped red mullet (Mullus surmuletus)MOLECULAR ECOLOGY RESOURCES, Issue 2 2007J. A. GALARZA Abstract Ten polymorphic dinucleotide microsatellite loci were isolated and characterized for the red mullet (Mullus barbatus). Allele variability was tested on both the red mullet and its congener the striped red mullet (Mullus surmuletus). Characterization of 30 individuals of both species from the western Mediterranean showed moderate to high allelic diversity ranging from two to 26 alleles per locus (mean 10.9). Three loci showed departures from Hardy,Weinberg proportions. No evidence of significant association between genotypes at pairs of loci was observed. These polymorphic loci could be suitable for population genetic assessments of both species. [source] Genetic characterization of specific pathogen-free rhesus macaque (Macaca mulatta) populations at the California National Primate Research Center (CNPRC)AMERICAN JOURNAL OF PRIMATOLOGY, Issue 7 2010Sree Kanthaswamy Abstract A study based on 14 STRs was conducted to understand intergenerational genetic changes that have occurred within the California National Primate Research Center's (CNPRC) regular specific pathogen-free (SPF) and super-SPF captive rhesus macaque populations relative to their conventional founders. Intergenerational genetic drift has caused age cohorts of each study population, especially within the conventional population, to become increasingly differentiated from each other and from their founders. Although there is still only minimal stratification between the conventional population and either of the two SPF populations, separate derivation of the regular and super-SPF animals from their conventional founders has caused the two SPF populations to remain marginally different from each other. The regular SPF and, especially, the super-SPF populations have been influenced by the effects of differential ancestry, sampling, and lost rare alleles, causing a substantial degree of genetic divergence between these subpopulations. The country of origin of founders is the principal determinant of the MHC haplotype composition of the SPF stocks at the CNPRC. Selection of SPF colony breeders bearing desired genotypes of Mamu-A*01 or -B*01 has not affected the overall genetic heterogeneity of the conventional and the SPF research stocks. Because misclassifying the ancestry of research stocks can undermine experimental outcomes by excluding animals with regional-specific genotypes or phenotypes of importance, understanding founder/descendent genetic relationships is crucial for investigating candidate genes with distinct geographic origins. Together with demographic management, population genetic assessments of SPF colonies can curtail excessive phenotypic variation among the study stocks and facilitate successful production goals. Am. J. Primatol. 72:587,599, 2010. © 2010 Wiley-Liss, Inc. [source] Post-release movements and habitat use of robust redhorse transplanted to the Ocmulgee River, Georgia,AQUATIC CONSERVATION: MARINE AND FRESHWATER ECOSYSTEMS, Issue 2 2009Timothy B. Grabowski Abstract 1.Robust redhorse Moxostoma robustum is an imperiled, potadromous fish in the south-eastern USA. Initial recovery efforts have focused on supplementing existing populations and establishing refugial populations through extensive stocking programmes. However, assessment of the success of these programmes has not yet been conducted, and there are few reports evaluating the effectiveness of such programmes with other potadromous species. 2.Radio telemetry was employed to assess the effectiveness of a stocking programme aimed at addressing whether stocked individuals would remain in an area free of introduced predators and ascertaining the ability of stocked fish to integrate into a resident population. 3.Hatchery-reared robust redhorse were captured from refugial populations established in other river systems and were transferred to the Ocmulgee River, Georgia where a population of hatchery-reared individuals and an unknown number of wild fish reside. 4.These transferred robust redhorse exhibited an exploratory phase for the first 3 months before adopting behaviour patterns, including spawning migrations, that were consistent with those reported for wild fish in other systems. However, some individuals seemed unable to locate suitable spawning habitat. 5.Approximately half of the radio-tagged fish remained within the area free of introduced predators. 6.At least some radio-tagged robust redhorse fully integrated into the resident population as evidenced by their presence in spawning aggregations with resident individuals. 7.The effectiveness of a stocking programme is dependent upon the ability of stocked individuals to integrate into an existing population or replicate the behaviour and functionality of a resident population. Evaluations of stocking programmes should incorporate assessments of behaviour in addition to surveys to estimate abundance and survivorship and genetic assessments of augmentation of effective population sizes. Published in 2008 by John Wiley & Sons, Ltd. [source] |