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PubMed1976

Issues in the genetics of social behavior.

The genetics of social behavior presents special difficulties because the phenotype is the product of an interaction between two or more individuals. Social interactions are of two kinds: (1) cooperative, in which the probabilities of transmission of the genes of all participants are similarly affected by the outcome, and (2) agonistic, in which the probabilities for the participants are affected in opposite directions. The latter are of particular interest for evolutionary theory. Three major types of designs for measuring social behavior in genetic experiments are available: (1) homogeneous sets, (2) standard tester, and (3) tester panel representing a reference population. The advantages and limitations of each method are discussed. Important areas for future development include the relationship of genetic and experiential factors in early life to social status as an adult and the extension of the genetic analysis of social behavior to natural populations.

Animals↗

PubMed1998

Serum zinc levels in healthy subjects from southeastern Spain.

The serum zinc (Zn) concentrations of 80 healthy subjects (48 male, 32 female) from southeastern Spain were determined by atomic absorption spectrometry. The samples were digested by heating in a 4:1 mixture of nitric and perchloric acids. The concentration of Zn was determined against a Contox Trace Metal Serum Control Panel A standard reference. Zn concentrations in the standard were found to be 2.332+/-0.489 mg/L, with a mean recovery of 102.7%. In the serum samples, the relative standard deviation was <6% for the range of concentrations determined: 0.420-1.540 mg/L for women (mean value 0.947+/-0.265 mg/L) and 0.490-1.480 mg/L for men (mean value 0.951+/-0.243 mg/L). In healthy subjects, no statistically significant differences were observed in the Zn levels with respect to their sex (p > 0.05) or the location where they lived (mountainous vs coastal zones). It is concluded that the dietary Zn intake and Zn status for healthy adults in this region of Spain are within normal values.

Adolescent↗

PubMed2024

Common genetic variants associated with urinary phthalate levels in children: A genome-wide study.

INTRODUCTION: Phthalates, or dieters of phthalic acid, are a ubiquitous type of plasticizer used in a variety of common consumer and industrial products. They act as endocrine disruptors and are associated with increased risk for several diseases. Once in the body, phthalates are metabolized through partially known mechanisms, involving phase I and phase II enzymes. OBJECTIVE: In this study we aimed to identify common single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) associated with the metabolism of phthalate compounds in children through genome-wide association studies (GWAS). METHODS: The study used data from 1,044 children with European ancestry from the Human Early Life Exposome (HELIX) cohort. Ten phthalate metabolites were assessed in a two-void pooled urine collected at the mean age of 8 years. Six ratios between secondary and primary phthalate metabolites were calculated. Genome-wide genotyping was done with the Infinium Global Screening Array (GSA) and imputation with the Haplotype Reference Consortium (HRC) panel. PennCNV was used to estimate copy number variants (CNVs) and CNVRanger to identify consensus regions. GWAS of SNPs and CNVs were conducted using PLINK and SNPassoc, respectively. Subsequently, functional annotation of suggestive SNPs (p-value < 1E-05) was done with the FUMA web-tool. RESULTS: We identified four genome-wide significant (p-value < 5E-08) loci at chromosome (chr) 3 (FECHP1 for oxo-MiNP_oh-MiNP ratio), chr6 (SLC17A1 for MECPP_MEHHP ratio), chr9 (RAPGEF1 for MBzP), and chr10 (CYP2C9 for MECPP_MEHHP ratio). Moreover, 115 additional loci were found at suggestive significance (p-value < 1E-05). Two CNVs located at chr11 (MRGPRX1 for oh-MiNP and SLC35F2 for MEP) were also identified. Functional annotation pointed to genes involved in phase I and phase II detoxification, molecular transfer across membranes, and renal excretion. CONCLUSION: Through genome-wide screenings we identified known and novel loci implicated in phthalate metabolism in children. Genes annotated to these loci participate in detoxification, transmembrane transfer, and renal excretion.

Humans↗

PubMed2004

Investigation of obesity candidate genes on porcine fat deposition quantitative trait loci regions.

OBJECTIVES: To investigate possible obesity candidate genes in regions of porcine quantitative trait loci (QTL) for fat deposition and obesity-related phenotypes. RESEARCH METHODS AND PROCEDURES: Chromosome mapping and QTL analyses of obesity candidate genes were performed using DNA panels from a reference pig family. Statistical association analyses of these genes were performed for fat deposition phenotypes in several other commercial pig populations. RESULTS: Eight candidate genes were mapped to QTL regions of pig chromosomes in this study. These candidate genes also served as anchor loci to determine homologous human chromosomal locations of pig fat deposition QTL. Preliminary analyses of relationships among polymorphisms of individual candidate genes and a variety of phenotypic measurements in a large number of pigs were performed. On the basis of available data, gene-gene interactions were also studied. DISCUSSION: Comparative analysis of obesity-related genes in the pig is not only important for development of marker-assisted selection on growth and fat deposition traits in the pig but also provides for an understanding of their genetic roles in the development of human obesity.

Adipose Tissue↗

PubMed1998

Routine HLA-B27 typing by flow cytometry: differentiation of the products of HLA-B2702, B2705 and B*2708.

Patient HLA-B27 typing is widely performed as an aid to the diagnosis of several diseases, particularly ankylosing spondylitis. Typing by flow cytometry, using monoclonal antibodies, has been shown to be a potentially useful alternative to classical serology on account of its speed, simplicity and economy. However, we required a flow cytometry typing procedure that would accurately differentiate HLA-B27 (Bw4) from B2708 (Bw6) and not be confounded by other HLA-B7/B27 cross-reactive group antigens. Accordingly, we evaluated the simultaneous use of two monoclonal antibody preparations, ABC-m3-FITC (anti-B27 + weak B7)/BB7.1-PE (anti-B7) and FD705-FITC (anti-B27), by testing a highly selected panel of 62 reference lymphocytes containing examples of all HLA-B7/B27 cross-reactive group antigens, including: HLA-B42, B47, B48, B73, B703, B2702, B2705 and B2708. In addition, 268 whole blood samples from routine patient requests for B27-associated disease typing were tested in parallel with HLA-B typing using the standard complement-dependent microlymphocytoxicity test. The detailed specificity of the three monoclonal antibodies was established and the products of HLA-B*2702, B*2705 and B*2708 were found to be readily differentiated from each other and all other HLA-B7/B27 cross-reactive HLA-B antigens.

Antibodies, Monoclonal↗

PubMed1999

In-vitro antimicrobial activity and chemical composition of Sardinian Thymus essential oils.

Essential oils and their components are becoming increasingly popular as naturally occurring antimicrobial agents. In this work the chemical composition and the antimicrobial properties of Thymus essential oils and of their main components were determined. Three essential oils obtained from different species of Thymus growing wild in Sardinia and a commercial sample of Thymus capitatus oil were analysed. The essential oil components were identified by GC/MS analysis. The antimicrobial activity of the oils and components was determined against a panel of standard reference strains and multiple strains of food-derived spoilage and pathogenic bacteria, using a broth microdilution method. The GC/MS analysis showed that the major constituents of the oils were monoterpene hydrocarbons and phenolic monoterpenes, but the concentration of these compounds varied greatly among the oils examined. The results of the antimicrobial assay showed that essential oils extracted from Sardinian Thymus species have an antimicrobial activity comparable to the one observed in other thyme oils. It seems also confirmed that the antimicrobial properties of thyme essential oils are mainly related to their high phenolic content. Among the single compounds tested carvacrol and thymol turned out to be the most efficient against both reference strains and food-derived bacteria. The results of this study confirmed the possibility of using thyme essential oils or some of their components in food systems to prevent the growth of foodborne bacteria and extend the shelf-life of processed foods.

Anti-Bacterial Agents↗

PubMed1999

Assessment of patient capacity to consent to treatment.

OBJECTIVE: To compare results of a specific capacity assessment administered by the treating clinician, and a Standardized Mini-Mental Status Examination (SMMSE), with the results of expert assessments of patient capacity to consent to treatment. DESIGN: Cross-sectional study with independent comparison to expert capacity assessments. SETTING: Inpatient medical wards at an academic secondary and tertiary referral hospital. PARTICIPANTS: One hundred consecutive inpatients facing a decision about a major medical treatment or an invasive medical procedure. Participants either were refusing treatment, or were accepting treatment but were not clearly capable according to the treating clinician. MEASUREMENTS AND MAIN RESULTS: The treating clinician (medical resident or student) conducted a specific capacity assessment on each participant, using a decisional aid called the Aid to Capacity Evaluation. A specific capacity assessment is a semistructured evaluation of the participant's ability to understand relevant information and appreciate reasonably foreseeable consequences with regard to the specific treatment decision. Participants also received a SMMSE administered by a research nurse. Participants then had two independent expert assessments of capacity. If the two expert assessments disagreed, then an independent adjudication panel resolved the disagreement after reviewing videotapes of both expert assessments. Using the two expert assessments and the adjudication panel as the reference standard, we calculated areas under the receiver-operating characteristic curves and likelihood ratios. The areas under the receiver-operating characteristic curves were 0.90 for specific capacity assessment by treating clinician and 0.93 for SMMSE score (2p =.48). For the treating clinician's specific capacity assessment, likelihood ratios for detecting incapacity were as follows: definitely incapable, 20 (95% confidence interval [CI] 3. 6, 120); probably incapable, 6.1 (95% CI 2.6, 15); probably capable, 0.39 (95% CI 0.18, 0.81); and definitely capable, 0.05 (95% CI 0.01, 0.29). For the SMMSE, a score of 0 to 16 had a likelihood ratio of 15 (95% CI 5.3, 44), a score of 17 to 23 had a likelihood ratio of 0. 68 (95% CI 0.35, 1.2), and a score of 24 to 30 had a likelihood ratio of 0.05 (95% CI 0.01, 0.26). CONCLUSIONS: Specific capacity assessments by the treating clinician and SMMSE scores agree closely with results of expert assessments of capacity. Clinicians can use these practical, flexible, and evaluated measures as the initial step in the assessment of patient capacity to consent to treatment.

Aged↗

PubMed1980

Isolation and localization of DNA segments from specific human chromosomes.

Recombinant DNA techniques have been combined with somatic cell genetic methods to identify, isolate, and amplify fragments of human DNA localized at specific regions of human chromosome 11 selected as a model system. A library of genomic DNA segments has been constructed, in lambda Charon 4A bacteriophage, from the DNA of a somatic cell hybrid carrying a portion of human chromosome 11 on a Chinese hamster ovary cell background. Using a nucleic acid hybridization technique that distinguishes human and Chinese hamster interspersed, repetitive DNA, we have been able to distinguish recombinant phages carrying DNA segments of human origin from recombinant phages carrying DNA segments of Chinese hamster origin. We have isolated 50 human DNA segments thus far and have characterized 5 in detail. For each DNA segment characterized, a subsegment that carries no repetitive human DNA sequences has been identified. These segments have been used as hybridization probes in experiments that localize the DNA fragment on the chromosome. In each case an unequivocal chromosomal localization has been obtained with reference to a panel of hybrid cell clones each of which carries a deletion of a portion of the short arm of chromosome 11. At least one DNA segment has been identified which maps to each of the four regions on the short arm defined by the panel of hybrid cell clones used. The approaches described here appear to be general. They can be extended to produce a fine structure map of human chromosome 11 and other human chromosomes. This approach promises implications for human genetics generally, for the human genetic diseases, and possibly for understanding of gene regulation in normal and abnormal differentiation.

Animals↗

PubMed2004

ProMED-mail: an early warning system for emerging diseases.

The Program for Monitoring Emerging Diseases (ProMED-mail) reports on outbreaks of diseases of infectious or toxic etiology, whether natural or intentionally released, that affect humans. Open to all sources, free of political constraints, and available to users free of charge, ProMED-mail exploits the speed and ubiquity of the Internet to serve as an early warning system for the detection of emerging disease outbreaks. ProMED-mail monitors diseases of plants and animals of agricultural importance in addition to zoonoses because of their key role in disease emergence. Reports are carefully screened for validity and are placed in an appropriate context by commentary and references from a panel of expert moderators. Reports are then posted to the Web and sent by e-mail to >32,000 subscribers in >150 countries.

Animals↗

PubMed2000

A detailed linkage map of medaka, Oryzias latipes: comparative genomics and genome evolution.

We mapped 633 markers (488 AFLPs, 28 RAPDs, 34 IRSs, 75 ESTs, 4 STSs, and 4 phenotypic markers) for the Medaka Oryzias latipes, a teleost fish of the order Beloniformes. Linkage was determined using a reference typing DNA panel from 39 cell lines derived from backcross progeny. This panel provided unlimited DNA for the accumulation of mapping data. The total map length of Medaka was 1354.5 cM and 24 linkage groups were detected, corresponding to the haploid chromosome number of the organism. Thirteen to 49 markers for each linkage group were obtained. Conserved synteny between Medaka and zebrafish was observed for 2 independent linkage groups. Unlike zebrafish, however, the Medaka linkage map showed obvious restriction of recombination on the linkage group containing the male-determining region (Y) locus compared to the autosomal chromosomes.

Animals↗

PubMed2004

Cutaneous malignant melanoma and neurofibromatosis type 1.

Neurofibromatosis 1 (NF1) is a genetically transmitted disease occurring approximately once in 3000 live births and resulting from mutations of the NF1 gene that encodes a protein named neurofibromin, a negative regulator of the ras-dependent pathway. An excess of neoplasia especially tumours of neuroectodermal origin is classically observed. The occurrence of malignant melanoma in patients with NF1 has already been described in scattered clinical reports but little is known as to the characteristics of melanoma arising in NF1 patients. A multicentric retrospective study was conducted on a panel of French referring centres for a period of 13 years to identify patients with both melanoma and NF1. Patients with mucosal or ocular melanoma were excluded. The diagnosis of malignant melanoma was based on specific histology whereas NF1 was identified according to the criteria proposed by the NIH Consensus Conference. All patient fulfilling criteria for both melanoma and NF1 were investigated using a common procedure recording clinical and histological data along with prognostic factors for the two diseases. Eleven patients were identified with both diseases. The clinical pattern of NF1 was quite similar to the classical form of the disease, but some unusual features were present as regards to the melanoma: a sex-ratio of 10 women for one man and an average age lower than expected (median age=33 years) for melanoma occurrence. Among prognostic factors, median thickness was high compared to large series of melanoma in the literature (3.20 versus 1.5 mm). Another neoplasia occurred in three patients. An increase in melanoma incidence in patients with NF1 remains hypothetical but our small series of malignant melanoma arising in NF1 patients displays a large female preponderance, a higher thickness than expected and a frequent association with a second neoplasia. The peculiar female proneness for cancer whatever its localization and the risk of multiple neoplasias have already been reported in NF1 patients and could be true for malignant melanoma as well.

Adult↗

PubMed1988

A frequency matrix for probabilistic identification of some bacilli.

A matrix comprising frequencies for positive results for 44 Bacillus taxa for 30 characters has been constructed. The 44 taxa include most of the common species and several clusters of environmental isolates including those described as B. firmus-B. lentus intermediates. The tests, which were chosen for their high diagnostic value, included some of the traditional tests used for identification of bacilli supplemented with a range of sugar fermentations and other characterization tests. The matrix was evaluated by identifying hypothetical median organisms, cluster representatives and a panel of 23 reference strains. All reference strains achieved Willcox probabilities above 0.995. Fifty-eight environmental isolates were also subjected to the 30 tests and identification was attempted. Forty-one strains (70%) achieved a Willcox probability greater than 0.95, which was considered an acceptable identification, and were assigned to 12 taxa. If the SE of taxonomic distance was also considered in the identification score (an acceptable value being less than 7.0), the number of acceptable identifications was reduced to 34 (59%). It was encouraging that bacteria from garden soils identified to the common species such as B. subtilis, B. cereus and B. licheniformis whereas some of the bacteria from an estuarine habitat were identified as species such as B. firmus which are normally identified with that habitat.

Bacillus↗

PubMed1993

HLA DNA preorgan retrieval donor typing in renal transplantation.

For the first time, a DNA technique was used in clinical practice for pre-organ donor retrieval typing in renal transplantation. The method is based on the polymerase chain reaction with nested sequence-specific pairs (nested PCR-SSP) for all serological HLA-DR specificities of DR1-DR18. A panel of reference-typed individuals (n = 101) was investigated in a blind quality control study and the results revealed a sensitivity of 99.5% and a specificity of 100%. Semi-automation of PCR-SSP provided rapid, accurate and reliable typing results demonstrating that this DNA test is most suitable for replacing the error-prone HLA-DR serological technique. Twenty-seven consecutive cadaveric organ donors have been successfully typed so far. The results were available within less than 3 h after blood sampling and in all cases prior to the retrieval of organs. In conclusion, the introduction of this accurate DNA typing in HLA matching programs may significantly improve the graft survival rate in renal transplantation.

Blood Grouping and Crossmatching↗

PubMed2006

Highly diverse type of equine arteritis virus (EAV) from the semen of a South African donkey: short communication.

Equine arteritis virus (EAV) was detected by RT-nested PCR in semen samples from a naturally infected South African donkey. Sequence analysis of the amplified ORF5 fragment revealed only 60 to 70% nucleotide identity to a panel of EAV reference sequences. The unique donkey EAV sequence was also found to be stable during passage in horses. The sequence data reported in this study indicate that the South African donkey variant might represent a new genotype of EAV. The distinct genetic properties of the South African asinine strain of EAV suggest a divergent evolution of this arterivirus in various host species or, alternatively, a possible role for African donkeys in the emergence of EAV in horses.

Animals↗

PubMed1983

Human monoclonal antibodies to a genus-specific chlamydial antigen, produced by EBV-transformed B cells.

Stable B cell lines producing human monoclonal antibodies to Chlamydia were established from salpingitis patients in the early convalescence phase. The antibody-producing cells were immortalized by Epstein Barr virus (EBV) transformation. Specific antibody-secreting clones were enriched by a stepwise microtiter plate cloning procedure. The selected B cell clones showed stable antibody production for more than 1 yr in continuous culture. Serologic specificity was demonstrated by micro-immunofluorescence (micro-IF) tests against a panel of Chlamydia reference strains. The antibodies were of the IgG1 subclass, and complement fixation could be demonstrated for one clone. There was no cross-reactivity against a large number of other bacteria. The monoclonal antibodies are directed against a common genus-specific surface antigen of the Chlamydia organism. Infected McCoy cells showed a brilliant, punctuated fluorescence surrounded by an inclusion membrane. Compared with conventional antisera, the monoclonal antibodies showed a clearer fluorescence pattern with very low background.

Antibodies, Bacterial↗

PubMed1982

The development of blood services in Singapore.

The Singapore Blood Transfusion Service (BTS) collects, processes and distributes blood and blood components to all hospitals. It also provides clinical and diagnostic haematological services to the hospitals. Blood donation is based on an entirely voluntary system. Blood donor incentives include a scheme of medical benefits for regular blood donors. Major advances in the 1960s include the introduction of disposable plastic blood packs for blood collections which permitted blood components to be prepared in a closed system. The development of a mobile blood collection service has enabled many more donor sources to be tapped. Hepatitis B Surface Antigen (HBsAg) screening of blood donors was introduced in 1973 as local studies showed that HBsAg positive blood was associated with a high risk of hepatitis. HBsAg positive donors are permanently excluded from the donor panel. BTS provides reference services for Immunohaematology, Coagulation problems, a clinical and diagnostic haematology service and a haemophilia centre. A computerized system of blood donor call up and the introduction of automation in the transfusion and haematology laboratories have helped BTS cope with an increasing volume of work and at the same time restrain manpower increases.

Blood Banks↗

PubMed1993

[A synthetic peptide-based immunoenzyme test system for the joint detection of human retrovirus (HTLV-1 and HIV-1) antibodies].

The study was made to develop an immunodiagnostic test system based on synthetic peptides able to detect in the same assay the total concentration of heterospecific antibodies against human retroviruses HTLV-1 and HIV-1. Three panels of reference-sera contained antibodies to HTLV-1 (70 specimens), HIV-1 (50 and 16 specimens) and 4 synthetic peptides corresponding to protein fragments p19 gag and gp46 env HTLV-1, gp120 and gp41 env HIV-1. Immune reactivity of the peptides with reference sera was measured in the immunoassay. It is established that relevant peptides mimic immunodominant B-epitopes of structural proteins HTLV-1 and HIV-1 and are recognized specifically by relevant antiviral antibodies. The enzyme immunoassay test system has been designed using a peptide combination in a single antigen complex. The system showed high diagnostic sensitivity.

Antibodies, Heterophile↗

PubMedDate not supplied

[Immunoreactivity of synthetic peptides, corresponding to B-cellular epitopes of human type I T-lymphotrophic virus structural proteins].

The immunoreactivity of 25 synthetic peptides corresponding to amino acid fragments of the HTLV-I structural proteins p19 gag, gp46 and gp21 env were studied in enzyme linked immunosorbent assay using a serum panel of 70 reference positive specimens with anti-HTLV-I antibodies. The location of the synthetic peptides containing the B-cell epitopes of HTLV-I was established. Anti-HTLV-I antibodies effectively recognized these peptides. The significance of some amino acids for forming the HTLV-I antigenic determinants was estimated. The synthetic peptides with amino acid sequences 100-130 p19 gag and 176-201 gp46 env were found to have most immunoreactivity (90-99% recognition by sera of HTLV-I infected patients) and mimic the immunodominant B-cell epitopes of HTLV-I structural proteins.

Amino Acid Sequence↗