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https://www.readbyqxmd.com/read/28448554/evaluation-of-efficiency-of-controlled-pollination-based-parentage-analysis-in-a-larix-gmelinii-var-principis-rupprechtii-mayr-seed-orchard
#1
Wenting Sun, Dade Yu, Mingliang Dong, Jian Zhao, Xiaoping Wang, Hongjing Zhang, Jinfeng Zhang
Controlled pollination (CP) is an important tool for breeding programs to improve seed quality, as it rapidly generates desirable genotypes and maximizes genetic gains. However, few studies have evaluated the success rate of CP, especially in Larix gmelinii var. principis-rupprechtii Mayr. seed orchards. In this study, we estimated the rate of correct parentage in 257 CP progeny in an L. gmelinii var. principis-rupprechtii seed orchard from ten candidate parents using 13 microsatellites. The parentage exclusion probabilities of all combined loci in the single parent and parent pair tests were > 0...
2017: PloS One
https://www.readbyqxmd.com/read/28444876/cataracts-in-a-population-of-bengal-cats-in-france
#2
Aurélie Bourguet, Gilles Chaudieu, Alice Briatta, Alexandre Guyonnet, Marie Abitbol, Sabine Chahory
OBJECTIVE: To document the clinical appearance and prevalence of cataracts in a French population of Bengal cats. METHODS: Two distinct populations of Bengal cats were examined as follows: (i) 51 animals recruited for evaluation of national prevalence of ocular diseases in an observational study conducted between October 2014 and November 2016 at the Alfort ophthalmology unit; (ii) 12 patients referred for cataract diagnosis examined at a veterinary eye clinic located in central France, between December 2014 and February 2016...
April 25, 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#3
Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Congenital Hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in < 10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in 177 unrelated CH patients (94 gland-in-situ; 83 dysgenesis) and in 3,538 control subjects...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28444225/genetic-influence-on-the-sulcal-pits-on-the-origin-of-the-first-cortical-folds
#4
Yann Le Guen, Guillaume Auzias, François Leroy, Marion Noulhiane, Ghislaine Dehaene-Lambertz, Edouard Duchesnay, Jean-François Mangin, Olivier Coulon, Vincent Frouin
The influence of genes on cortical structures has been assessed through various phenotypes. The sulcal pits, which are the putative first cortical folds, have for long been assumed to be under tight genetic control, but this was never quantified. We estimated the pit depth heritability in various brain regions using the high quality and large sample size of the Human Connectome Project pedigree cohort. Analysis of additive genetic variance indicated that their heritability ranges between 0.2 and 0.5 and displays a regional genetic control with an overall symmetric pattern between hemispheres...
April 21, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28444202/application-of-genomic-estimation-methods-of-inbreeding-and-population-structure-in-an-arabian-horse-herd
#5
Mohammed A Al Abri, Uta König von Borstel, Veronique Strecker, Samantha A Brooks
Horse breeders rely heavily on pedigrees for identification of ancestry in breeding stock. Inaccurate pedigrees may erroneously assign individuals to false lineages or breed memberships resulting in wrong estimates of inbreeding and coancestry. Moreover, discrepancies in pedigree records can lead breeders seeking to limit inbreeding into making misguided breeding decisions. Genome-wide SNPs provide a quantitative tool to aid in the resolution of lineage assignments and the calculation of genomic measures of relatedness...
April 21, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28439664/women-at-familial-risk-of-breast-cancer-electing-for-prophylactic-mastectomy-frequencies-procedures-and-decision-making-characteristics
#6
Sarah Schott, Lisa Vetter, Monika Keller, Thomas Bruckner, Michael Golatta, Sabine Eismann, Nicola Dikow, Christina Evers, Christof Sohn, Joerg Heil
BACKGROUND: Some women of families at high risk of breast cancer (BC) choose prophylactic mastectomy (PM) in spite of ambiguous evidence for survival benefits. The aim of this study was to investigate counselees' characteristics, decisions on PM, and frequencies of different procedures to better understand how to tailor interventions. PATIENTS AND METHODS: Eight hundred and forty-nine counselees who attended interdisciplinary consultation for genetic risk adjustment at the University Hospital Heidelberg between July 2009 and July 2011 received a tripartite questionnaire addressing sociodemographic characteristics, psychological parameters, behavioural questions, and medical data...
April 24, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28437587/relationship-type-affects-the-reliability-of-dispersal-distance-estimated-using-pedigree-inferences-in-partially-sampled-populations-a-case-study-involving-invasive-american-mink-in-scotland
#7
Y Melero, M K Oliver, X Lambin
Estimating dispersal - a key parameter for population ecology and management - is notoriously difficult. The use of pedigree assignments, aided by likelihood-based softwares, has become popular to estimate dispersal rate and distance. However, the partial sampling of populations may produce false assignments. Further, it is unknown how the accuracy of assignment is affected by the genealogical relationships of individuals and is reflected by software-derived assignment probabilities. Inspired by a project managing invasive American mink (Neovison vison), we estimated individual dispersal distances using inferred pairwise relationships of culled individuals...
April 24, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28437562/no-post-copulatory-selection-against-mhc-homozygous-offspring-evidence-from-a-pedigreed-captive-rhesus-macaque-colony
#8
E H M Sterck, R E Bontrop, N de Groot, A J M de Vos-Rouweler, G G M Doxiadis
The heterozygosity status of polymorphic elements of the immune system, such as the Major Histocompatability Complex (MHC), are known to increase the potential to cope with a wider variety of pathogens. Pre- and post-copulatory processes may regulate MHC heterozygosity. In a population where mating occurs among individuals that share identical MHC-haplotypes, post-copulatory selection may disfavour homozygous offspring or ones with two MHC-haplotypes identical to its mother. We tested these ideas by determining the incidence of MHC-heterozygous and MHC-homozygous individuals in a pedigreed, partially consanguineous captive rhesus monkey colony...
April 24, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28434751/genome-wide-mapping-and-estimation-of-inbreeding-depression-of-semen-quality-traits-in-a-cattle-population
#9
Maja Ferenčaković, Johann Sölkner, Miroslav Kapš, Ino Curik
Inbreeding depression is known to affect quantitative traits such as male fertility and sperm quality, but the genetic basis for these associations is poorly understood. Most studies have been limited to examining how pedigree- or marker-derived genome-wide autozygosity is associated with quantitative phenotypes. In this study, we analyzed possible associations of genetic features of inbreeding depression with percentage of live spermatozoa and total number of spermatozoa in 19,720 ejaculates obtained from 554 Austrian Fleckvieh bulls during routine artificial insemination programs...
April 20, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28431016/somatic-transposition-and-meiotically-driven-elimination-of-an-active-helitron-family-in-pleurotus-ostreatus
#10
Alessandra Borgognone, Raúl Castanera, Elaia Muguerza, Antonio G Pisabarro, Lucía Ramírez
Helitrons constitute a superfamily of DNA transposons that were discovered in silico and are widespread in most eukaryotic genomes. They are postulated to mobilize through a "rolling-circle" mechanism, but the experimental evidence of their transposition has been described only recently. Here, we present the inheritance patterns of HELPO1 and HELPO2 helitron families in meiotically derived progeny of the basidiomycete Pleurotus ostreatus. We found distorted segregation patterns of HELPO2 helitrons that led to a strong under-representation of these elements in the progeny...
April 1, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://www.readbyqxmd.com/read/28425625/a-missense-mutation-in-damage-specific-dna-binding-protein-2-is-a-genetic-risk-factor-for-limbal-squamous-cell-carcinoma-in-horses
#11
Rebecca R Bellone, Jiayin Liu, Jessica L Petersen, Maura Mack, Moriel Singer-Berk, Cord Drögemüller, Julia Malvick, Barbara Wallner, Gottfried Brem, M Cecilia Penedo, Mary Lassaline
Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome wide association study (N=23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (Pcorrected = 0...
April 20, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28425010/a-novel-fibrinogen-variant-dysfibrinogenemia-associated-with-%C3%AE-asp185asn-substitution
#12
Na Zhou, Peipei Xu, Min Zhou, Yong Xu, Ping Li, Bin Chen, Jian Ouyang, Rongfu Zhou
To identify the pathogenesis of a Chinese woman diagnosed with dysfibrinogenemia. A patient from Nanjing presented with a low plasma concentration of fibrinogen and a normal level of antigen of fibrinogen. This abnormality was also detected in her son. To detect whether the genetic mutation was responsible for the dysfibrinogenemia, genomic DNA was extracted and amplified by polymerase chain reaction, and DNA sequencing was performed on the purified PCR products. Restriction fragment length polymorphism (RFLP), molecular modeling and homologous sequences alignment were performed...
April 19, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28423000/inbreeding-and-selection-shape-genomic-diversity-in-captive-populations-implications-for-the-conservation-of-endangered-species
#13
Janna R Willoughby, Jamie A Ivy, Robert C Lacy, Jacqueline M Doyle, J Andrew DeWoody
Captive breeding programs are often initiated to prevent species extinction until reintroduction into the wild can occur. However, the evolution of captive populations via inbreeding, drift, and selection can impair fitness, compromising reintroduction programs. To better understand the evolutionary response of species bred in captivity, we used nearly 5500 single nucleotide polymorphisms (SNPs) in populations of white-footed mice (Peromyscus leucopus) to measure the impact of breeding regimes on genomic diversity...
2017: PloS One
https://www.readbyqxmd.com/read/28421066/unveiling-the-hybrid-genome-structure-of-escherichia-coli-rr1-hb101-reca
#14
Haeyoung Jeong, Young Mi Sim, Hyun Ju Kim, Sang Jun Lee
There have been extensive genome sequencing studies for Escherichia coli strains, particularly for pathogenic isolates, because fast determination of pathogenic potential and/or drug resistance and their propagation routes is crucial. For laboratory E. coli strains, however, genome sequence information is limited except for several well-known strains. We determined the complete genome sequence of laboratory E. coli strain RR1 (HB101 RecA(+)), which has long been used as a general cloning host. A hybrid genome sequence of K-12 MG1655 and B BL21(DE3) was constructed based on the initial mapping of Illumina HiSeq reads to each reference, and iterative rounds of read mapping, variant detection, and consensus extraction were carried out...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28420607/the-research-progress-of-farm-animal-genomics-based-on-sequencing-technologies
#15
Liang Suyun, Zhou Zhengkui, Hou Shuisheng
Various farm animal breeds have been domesticated and bred for thousands years, and they provide adequate animal-derived proteins to meet the human nutrition requirement. Although quantitative genetics was applied in animal breeding, which launched a technological revolution in the past century, a number of complex traits remain difficult to be selected based on pedigree derived breeding, due to complicated animal genetics and development mechanisms. Farm animal's genetic potential hasn't yet to be fully exploited...
April 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28413499/identification-a-nonsense-mutation-of-apc-gene-in-chinese-patients-with-familial-adenomatous-polyposis
#16
Haishan Li, Lingling Zhang, Quan Jiang, Zhenwang Shi, Hanxing Tong
Familial adenomatous polyposis (FAP; Mendelian of Inherintance in Man ID, 175100) is a rare autosomal dominant disorder characterized by the development of numerous adenomatous polyps throughout the colon and rectum associated with an increased risk of colorectal cancer. FAP is at time accompanied with certain extraintestinal manifestations such as congenital hypertrophy of the retinal pigment epithelium, dental disorders and desmoid tumors. It is caused by mutations in the adenomatous polyposis coli (APC) gene...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28412068/vitreous-amyloidosis-ocular-systemic-and-genetic-insights
#17
Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohra
PURPOSE: To report the unique clinical and surgical characteristics encountered in eyes with vitreous amyloidosis. Systemic evaluation and visual outcome after vitrectomy are discussed. A novel mutation in the transthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described. DESIGN: Retrospective, observational study. PARTICIPANTS: Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28408708/nonfamilial-hypertrophic-cardiomyopathy-prevalence-natural-history-and-clinical-implications
#18
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll, Christopher Semsarian
BACKGROUND: Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM. METHODS AND RESULTS: Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28402008/genome-wide-association-studies-reveal-additional-related-loci-for-fatty-acid-composition-in-a-duroc-pig-multigenerational-population
#19
Shuji Sato, Yoshinobu Uemoto, Takashi Kikuchi, Sachiko Egawa, Kimiko Kohira, Tomomi Saito, Hironori Sakuma, Satoshi Miyashita, Shinji Arata, Keiichi Suzuki
The aim of the present study was to detect quantitative trait loci affecting fatty acid composition in back fat and intramuscular fat in a Duroc pig population comprising seventh-generation pedigrees using genome-wide association studies (GWAS). In total, 305 animals were genotyped using single nucleotide polymorphisms (SNPs) array and five selected SNPs from regions containing known candidate genes related to fatty acid synthesis or metabolism. In total, 24 genome-wide significant SNP regions were detected in 12 traits, and 76 genome-wide suggestive SNP regions were detected in 33 traits...
April 12, 2017: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/28398480/estimating-inbreeding-rates-in-natural-populations-addressing-the-problem-of-incomplete-pedigrees
#20
Mark P Miller, Susan M Haig, Jonathan D Ballou, E Ashley Steel
Understanding and estimating inbreeding is essential for managing threatened and endangered wildlife populations. However, determination of inbreeding rates in natural populations is confounded by incomplete parentage information. We present an approach for quantifying inbreeding rates for populations with incomplete parentage information. The approach exploits knowledge of pedigree configurations that lead to inbreeding coefficients of F = 0.25 and F = 0.125, allowing for quantification of Pr(I|k): the probability of observing pedigree I given the fraction of known parents (k)...
April 7, 2017: Journal of Heredity
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