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Kinship testing

Kalin Vidinov, Dragomira Nikolova
In recent years, there are numerous reports indicating the presence of familial papillary carcinoma. Unfortunately, no genetic defect can be linked directly to the disease. In this study, we set the goal to make a retrospective analysis of the cases with papillary carcinoma in the Department of Endocrine Surgery for the past 10 years, to compare the characteristics of sporadic and familial forms of the disease and to find families with hereditary papillary carcinoma. The study included 810 patients treated for thyroid cancer in the Department of Endocrine Surgery, USBALE "Acad...
October 22, 2016: Endocrine Pathology
Siobhán M Mattison, Bret Beheim, Bridget Chak, Peter Buston
Son preference predominates in China, yet there are patterned exceptions to this rule. In this paper, we test whether lineality (patrilineal versus matrilineal inheritance and descent) is associated with son versus daughter preference among the ethnic Mosuo (Na) of Southwest China. Our results show (i) an increased probability of continued fertility among matrilineal women after having a son compared with a daughter and (ii) an increased probability of continued fertility among patrilineal women after having a daughter compared with a son...
September 2016: Royal Society Open Science
Qiu-Ling Liu, Li Xue, Wei-Wei Wu, Xin He, Kai-Yan Liu, Hu Zhao, De-Jian Lu
In this study, a panel of 13 STR loci locate on chromosome 3, 4, and 17 (D3S2402, D3S2452, D3S1766, D3S4554, D3S2388, D3S3051, D3S3053, D4S2404, D4S2364, AC001348A, AC001348B, D17S975, and D17S1294) were assessed for pairwise kinship analysis. Map distances between these STR loci ranged from 0.07 cM to 97.03 cM. The population genetic study of Chinese Han population showed that linkage disequilibrium exists in two clusters of closely linked markers (D4S2404-D4S2364 and D17S975-D17S1294), in which the recombination fractions were 0...
October 4, 2016: Electrophoresis
Jesse D Raffa, Elizabeth A Thompson
Correlation between study units in quantitative genetics studies often makes it difficult to compare important inferential aspects of studies. Describing the relatedness between study units is critical to capture features of pedigree studies involving heritability, including power and precision of heritability estimates. Blangero et al (2012) showed that in pedigree studies the power to detect heritability is a function of the true heritability and the eigenvalues of the kinship matrix. We extend this to a more general setting which allows statements about expected precision of heritability estimates...
October 2016: Statistics in Biosciences
Frank R Wendt, David H Warshauer, Xiangpei Zeng, Jennifer D Churchill, Nicole M M Novroski, Bing Song, Jonathan L King, Bobby L LaRue, Bruce Budowle
Short tandem repeat (STR) loci are the traditional markers used for kinship, missing persons, and direct comparison human identity testing. These markers hold considerable value due to their highly polymorphic nature, amplicon size, and ability to be multiplexed. However, many STRs are still too large for use in analysis of highly degraded DNA. Small bi-allelic polymorphisms, such as insertions/deletions (INDELs), may be better suited for analyzing compromised samples, and their allele size differences are amenable to analysis by capillary electrophoresis...
September 20, 2016: Forensic Science International. Genetics
Roksana Ewa Zofia Malak, Agnieszka Krawczyk-Wasielewska, Katarzyna Głodowska, Bartosz Grobelny, Paweł Kleka, Ewa Mojs, Przemysław Keczmer, Włodzimierz Samborski
INTRODUCTION: Caregivers of demented relatives devote their time and attention in order to help the beloved members of the family. Those who are informal caregivers require support in order to avoid being overburdened. Many such caregivers may suffer from chronic health problems, for instance, depression. OBJECTIVE: The aim was to assess the factors of depression in caregivers, and to discover the determinants of depression among informal family caregivers of demented individuals...
September 2016: Annals of Agricultural and Environmental Medicine: AAEM
Maud I Tenaillon, Domenica Manicacci, Stéphane D Nicolas, Francois Tardieu, Claude Welcker
Little is known about the factors driving within species Genome Size (GS) variation. GS may be shaped indirectly by natural selection on development and adaptative traits. Because GS variation is particularly pronounced in maize, we have sampled 83 maize inbred lines from three well described genetic groups adapted to contrasted climate conditions: inbreds of tropical origin, Flint inbreds grown in temperate climates, and Dent inbreds distributed in the Corn Belt. As a proxy for growth rate, we measured the Leaf Elongation Rate maximum during nighttime (LERmax) as well as GS in all inbred lines...
2016: PeerJ
Xuli Zhu, Huan Li, Meixia Ye, Libo Jiang, Mengmeng Sang, Rongling Wu
Allopolyploids are a group of polyploids with more than two sets of chromosomes derived from different species. Previous linkage analysis of allopolyploids is based on the assumption that different chromosomes pair randomly during meiosis. A more sophisticated model to relax this assumption has been developed for allotetraploids by incorporating the preferential pairing behavior of homologous over homoeologous chromosomes. Here, we show that the basic principle of this model can be extended to perform linkage analysis of higher-ploidy allohexaploids, where multiple preferential pairing factors are used to characterize chromosomal-pairing meiotic features between different constituent species...
September 19, 2016: Briefings in Bioinformatics
M D Coble, J Buckleton, J M Butler, T Egeland, R Fimmers, P Gill, L Gusmão, B Guttman, M Krawczak, N Morling, W Parson, N Pinto, P M Schneider, S T Sherry, S Willuweit, M Prinz
The use of biostatistical software programs to assist in data interpretation and calculate likelihood ratios is essential to forensic geneticists and part of the daily case work flow for both kinship and DNA identification laboratories. Previous recommendations issued by the DNA Commission of the International Society for Forensic Genetics (ISFG) covered the application of bio-statistical evaluations for STR typing results in identification and kinship cases, and this is now being expanded to provide best practices regarding validation and verification of the software required for these calculations...
September 4, 2016: Forensic Science International. Genetics
Coline M Arnaud, Takafumi Suzumura, Eiji Inoue, Mark J Adams, Alexander Weiss, Miho Inoue-Murayama
Using long-term maternal pedigree data, microsatellite analysis, and behavioral tests, we examined whether personality differences in wild Japanese macaques (Macaca fuscata) are associated with additive genetic effects, maternal influences, or belonging to a particular social group. Behaviors elicited by novel-object tests were defined by a component related to caution around novel-objects (Ob-PC1) and behaviors elicited by novel food-tests were defined by correlated components related to consummatory responses (Fo-PC1) and caution around novel foods (Fo-PC2)...
September 12, 2016: Primates; Journal of Primatology
A E Sanders, T Sofer, Q Wong, K F Kerr, C Agler, J R Shaffer, J D Beck, S Offenbacher, C R Salazar, K E North, M L Marazita, C C Laurie, R H Singer, J Cai, T L Finlayson, K Divaris
Chronic periodontitis (CP) has a genetic component, particularly its severe forms. Evidence from genome-wide association studies (GWASs) has highlighted several potential novel loci. Here, the authors report the first GWAS of CP among a large community-based sample of Hispanics/Latinos. The authors interrogated a quantitative trait of CP (mean interproximal clinical attachment level determined by full-mouth periodontal examinations) among 10,935 adult participants (mean age: 45 y, range: 18 to 76 y) from the Hispanic Community Health Study / Study of Latinos...
September 6, 2016: Journal of Dental Research
Marco Scutari, Ian Mackay, David Balding
The prediction of phenotypic traits using high-density genomic data has many applications such as the selection of plants and animals of commercial interest; and it is expected to play an increasing role in medical diagnostics. Statistical models used for this task are usually tested using cross-validation, which implicitly assumes that new individuals (whose phenotypes we would like to predict) originate from the same population the genomic prediction model is trained on. In this paper we propose an approach based on clustering and resampling to investigate the effect of increasing genetic distance between training and target populations when predicting quantitative traits...
September 2016: PLoS Genetics
Dana Pfefferle, Kurt Hammerschmidt, Roger Mundry, Angelina V Ruiz-Lambides, Julia Fischer, Anja Widdig
In social animals, kin relations strongly shape the social structure of a group. In female-bonded species, maternal relatedness is likely to be mediated via familiarity, but evidence is accumulating that non-human primates are able to recognize kin that they are not familiar with and adjust their behavior accordingly. In playback experiments, female rhesus macaques showed increased interest in 'coo' calls produced by unfamiliar paternal half-sisters compared to 'coo' calls produced by unfamiliar unrelated females, suggesting that these calls should have some common structural characteristics that facilitate the discrimination of kin from non-kin...
2016: PloS One
Marijana Vujkovic, Richard Aplenc, Todd A Alonzo, Alan S Gamis, Yimei Li
Regression analysis is commonly used in genome-wide association studies (GWAS) to test genotype-phenotype associations but restricts the phenotype to a single observation for each individual. There is an increasing need for analytic methods for longitudinally collected phenotype data. Several methods have been proposed to perform longitudinal GWAS for family-based studies but few methods are described for unrelated populations. We compared the performance of three statistical approaches for longitudinal GWAS in unrelated subjectes: (1) principal component-based generalized estimating equations (PC-GEE); (2) principal component-based linear mixed effects model (PC-LMEM); (3) kinship coefficient matrix-based linear mixed effects model (KIN-LMEM), in a study of single-nucleotide polymorphisms (SNPs) on the duration of 4 courses of chemotherapy in 624 unrelated children with de novo acute myeloid leukemia (AML) genotyped on the Illumina 2...
2016: Frontiers in Genetics
Lorraine Cowley
This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer (Lynch Syndrome). 50 were invited to participate (42 were tested; eight declined genetic testing). 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees' experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as 'common sense'; the idea of choice around the decision was negated and replaced by a moral imperative to be tested...
October 2016: Bioethics
Thore Egeland, Klaas Slooten
The likelihood ratio is the fundamental quantity that summarizes the evidence in forensic cases. Therefore, it is important to understand the theoretical properties of this statistic. This paper is the last in a series of three, and the first to study linked markers. We show that for all non-inbred pairwise kinship comparisons, the expected likelihood ratio in favor of a type of relatedness depends on the allele frequencies only via the number of alleles, also for linked markers, and also if the true relationship is another one than is tested for by the likelihood ratio...
November 2016: International Journal of Legal Medicine
U Toscanini, L Gusmão, M C Álava Narváez, J C Álvarez, L Baldassarri, A Barbaro, G Berardi, E Betancor Hernández, M Camargo, J Carreras-Carbonell, J Castro, S C Costa, P Coufalova, V Domínguez, E Fagundes de Carvalho, S T G Ferreira, S Furfuro, O García, A Goios, R González, A González de la Vega, A Gorostiza, A Hernández, S Jiménez Moreno, M V Lareu, A León Almagro, M Marino, G Martínez, M C Miozzo, N M Modesti, V Onofri, S Pagano, B Pardo Arias, S Pedrosa, G A Penacino, M L Pontes, M J Porto, J Puente-Prieto, R Ramírez Pérez, T Ribeiro, B Rodríguez Cardozo, Y M Rodríguez Lesmes, A Sala, B Santiago, V G Saragoni, A Serrano, E R Streitenberger, M A Torres Morales, S A Vannelli Rey, M Velázquez Miranda, M R Whittle, K Fernández, A Salas
Since 1992, the Spanish and Portuguese-Speaking Working Group of the ISFG (GHEP-ISFG) has been organizing annual Intercomparison Exercises (IEs) coordinated by the Quality Service at the National Institute of Toxicology and Forensic Sciences (INTCF) from Madrid, aiming to provide proficiency tests for forensic DNA laboratories. Each annual exercise comprises a Basic (recently accredited under ISO/IEC 17043: 2010) and an Advanced Level, both including a kinship and a forensic module. Here, we show the results for both autosomal and sex-chromosomal STRs, and for mitochondrial DNA (mtDNA) in two samples included in the forensic modules, namely a mixture 2:1 (v/v) saliva/blood (M4) and a mixture 4:1 (v/v) saliva/semen (M8) out of the five items provided in the 2014 GHEP-ISFG IE...
July 19, 2016: Forensic Science International. Genetics
Clare H Benton, Richard J Delahay, Andrew Robertson, Robbie A McDonald, Alastair J Wilson, Terry A Burke, Dave Hodgson
The importance of social- and kin-structuring of populations for the transmission of wildlife disease is widely assumed but poorly described. Social structure can help dilute risks of transmission for group members, and is relatively easy to measure, but kin-association represents a further level of population sub-structure that is harder to measure, particularly when association behaviours happen underground. Here, using epidemiological and molecular genetic data from a wild, high-density population of the European badger (Meles meles), we quantify the risks of infection with Mycobacterium bovis (the causative agent of tuberculosis) in cubs...
July 27, 2016: Proceedings. Biological Sciences
B Szabo, T Bugnyar, A M I Auersperg
Different types of social relationships can influence individual learning strategies in structured groups of animals. Studies on a number of avian species have suggested that local and/or stimulus enhancement are important ingredients of the respective species' exploration modes. Our aim was to identify the role of enhancement during object manipulation in different social contexts. We used focal observations to identify a linear dominance hierarchy as well as affiliative relationships between individuals in a group of 14 Goffin's cockatoos (Cacatua goffiniana, formerly goffini)...
July 12, 2016: Learning & Behavior
Eduardo A Undurraga, Veronica Nica, Rebecca Zhang, Irene C Mensah, Ricardo A Godoy
Mounting evidence suggests that income inequality is associated with worse individual health. But does the visibility of inequality matter? Using data from a horticultural-foraging society of native Amazonians in Bolivia (Tsimane'), we examined whether village inequality in resources and behaviors with greater cultural visibility is more likely to bear a negative association with health than village inequality in less conspicuous resources. We draw on a nine-year annual panel (2002-2010) from 13 Tsimane' villages for our main analysis, and an additional survey to gauge the cultural visibility of resources...
June 23, 2016: Economics and Human Biology
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