Distribution of HLA-A, -B and -DRB1 Genes and Haplotypes in the Tujia Population Living in the Wufeng Region of Hubei Province, China

BACKGROUND: The distribution of HLA alleles and haplotypes varies widely between different ethnic populations and geographic areas. Before any genetic marker can be used in a disease-associated study it is therefore essential to investigate allelic frequencies and establish a genetic database. METHODOLOGY/PRINCIPAL FINDINGS: This is the first report of HLA typing in the Tujia group using the Luminex HLA-SSO method HLA-A, -B and -DRB1 allelic distributions were determined in 124 unrelated healthy Tujia individuals, and haplotypic frequencies and linkage disequilibrium parameters were estimated using the maximum-likelihood method. In total 10 alleles were detected at the HLA-A locus, 21 alleles at the HLA-B locus and 14 alleles at the HLA-DRB1 locus. The most frequently observed alleles in the HLA-I group were HLA-A*02 (35.48%), A*11 (28.23%), A*24 (15.73%); HLA-B*40 (25.00%), B*46 (16.13%), and B*15 (15.73%). Among HLA-DRB1 alleles, high frequencies of HLA-DRB1*09 (25.81%) were observed, followed by HLA-DRB1*15 (12.9%), and DRB1*12 (10.89%). The two-locus haplotypes at the highest frequency were A*02-B*46A (8.47%), followed by A*11-B*40 (7.66%), A*02-B*40 (8.87%), A*11-B*15 (6.45%), A*02-B*15 (6.05%), B*40-DRB1*09 (9.27%) and B*46-DRB1*09 (6.45%). The most common three-locus haplotypes found in the Tujia population were A*02-B*46-DRB1*09 (4.84%) and A*02-B*40-DRB1*09 (4.03%). Fourteen two-loci haplotypes had significant linkage disequilibrium. Construction of a neighbor-joining phylogenetic tree and principal component analysis using the allelic frequencies at HLA-A was performed to compare the Tujia group and twelve other previously reported populations. The Tujia population in the Wufeng of Hubei Province had the closest genetic relationship with the central Han population, and then to the Shui, the Miao, the southern Han and the northern Han ethnic groups. CONCLUSIONS/SIGNIFICANCE: These results will become a valuable source of data for tracing population migration, planning clinical organ transplantation, carrying out HLA-linked disease-associated studies and forensic identification

The relationship between different dimensions of alcohol use and the burden of disease-an update.

Alcohol use is a major contributor to injuries, mortality and the burden of disease. This review updates knowledge on risk relations between dimensions of alcohol use and health outcomes to be used in global and national Comparative Risk Assessments (CRAs). Systematic review of reviews and meta-analyses on alcohol consumption and health outcomes attributable to alcohol use. For dimensions of exposure: volume of alcohol use, blood alcohol concentration and patterns of drinking, in particular heavy drinking occasions were studied. For liver cirrhosis, quality of alcohol was additionally considered. For all outcomes (mortality and/or morbidity): cause of death and disease/injury categories based on International Classification of Diseases (ICD) codes used in global CRAs; harm to others. In total, 255 reviews and meta-analyses were identified. Alcohol use was found to be linked causally to many disease and injury categories, with more than 40 ICD-10 three-digit categories being fully attributable to alcohol. Most partially attributable disease categories showed monotonic relationships with volume of alcohol use: the more alcohol consumed, the higher the risk of disease or death. Exceptions were ischaemic diseases and diabetes, with curvilinear relationships, and with beneficial effects of light to moderate drinking in people without heavy irregular drinking occasions. Biological pathways suggest an impact of heavy drinking occasions on additional diseases; however, the lack of medical epidemiological studies measuring this dimension of alcohol use precluded an in-depth analysis. For injuries, except suicide, blood alcohol concentration was the most important dimension of alcohol use. Alcohol use caused marked harm to others, which has not yet been researched sufficiently. Research since 2010 confirms the importance of alcohol use as a risk factor for disease and injuries; for some health outcomes, more than one dimension of use needs to be considered. Epidemiological studies should include measurement of heavy drinking occasions in line with biological knowledge

Allele Polymorphism and Haplotype Diversity of HLA-A, -B and -DRB1 Loci in Sequence-Based Typing for Chinese Uyghur Ethnic Group

Previous studies indicate that the frequency distributions of HLA alleles and haplotypes vary from one ethnic group to another or between the members of the same ethnic group living in different geographic areas. It is necessary and meaningful to study the high-resolution allelic and haplotypic distributions of HLA loci in different groups.High-resolution HLA typing for the Uyghur ethnic minority group using polymerase chain reaction-sequence-based-typing method was first reported. HLA-A, -B and -DRB1 allelic distributions were determined in 104 unrelated healthy Uyghur individuals and haplotypic frequencies and linkage disequilibrium parameters for HLA loci were estimated using the maximum-likelihood method. A total of 35 HLA-A, 51 HLA-B and 33 HLA-DRB1 alleles were identified at the four-digit level in the population. High frequency alleles were HLA-A*1101 (13.46%), A*0201 (12.50%), A*0301 (10.10%); HLA-B*5101(8.17%), B*3501(6.73%), B*5001 (6.25%); HLA-DRB1*0701 (16.35%), DRB1*1501 (8.65%) and DRB1*0301 (7.69%). The two-locus haplotypes at the highest frequency were HLA-A*3001-B*1302 (2.88%), A*2402-B*5101 (2.86%); HLA-B*5001-DRB1*0701 (4.14%) and B*0702-DRB1*1501 (3.37%). The three-locus haplotype at the highest frequency was HLA-A*3001-B*1302-DRB1*0701(2.40%). Significantly high linkage disequilibrium was observed in six two-locus haplotypes, with their corresponding relative linkage disequilibrium parameters equal to 1. Neighbor-joining phylogenetic tree between the Uyghur group and other previously reported populations was constructed on the basis of standard genetic distances among the populations calculated using the four-digit sequence-level allelic frequencies at HLA-A, HLA-B and HLA-DRB1 loci. The phylogenetic analyses reveal that the Uyghur group belongs to the northwestern Chinese populations and is most closely related to the Xibe group, and then to Kirgiz, Hui, Mongolian and Northern Han.The present findings could be useful to elucidate the genetic background of the population and to provide valuable data for HLA matching in clinical bone marrow transplantation, HLA-linked disease-association studies, population genetics, human identification and paternity tests in forensic sciences

Migraine in women: the role of hormones and their impact on vascular diseases

Migraine is a predominantly female disorder. Menarche, menstruation, pregnancy, and menopause, and also the use of hormonal contraceptives and hormone replacement treatment may influence migraine occurrence. Migraine usually starts after menarche, occurs more frequently in the days just before or during menstruation, and ameliorates during pregnancy and menopause. Those variations are mediated by fluctuation of estrogen levels through their influence on cellular excitability or cerebral vasculature. Moreover, administration of exogenous hormones may cause worsening of migraine as may expose migrainous women to an increased risk of vascular disease. In fact, migraine with aura represents a risk factor for stroke, cardiac disease, and vascular mortality. Studies have shown that administration of combined oral contraceptives to migraineurs may further increase the risk for ischemic stroke. Consequently, in women suffering from migraine with aura caution should be deserved when prescribing combined oral contraceptives

Variation among clones and ortet-ramet relationship in grafted Scots pine (Pinus sylvestris L.)

In order to study the relationship between ortets and ramets (grafts) growing in the same environment or at widely different localities, clone trials were established with 20 and 45 clones, respectively, at two localities in central Sweden. The ortets selected were plus trees or trees with poor to normal growth and quality, and of considerably varying age. The characteristics studied in 1-3 years were stem dimensions; number of branches; branch length, diameter and angle; stem straightness; and cone yield. The variation among clones was studied and the components of variance estimated. The main source of variation were the site differences within each locality. The variation between clones was pronounced in most traits, particularly in cone yield, and increased with age. The repeatability in each clone was good in one test field but poor in the other. Correlations among various clone characteristics, e.g. cone production and graft habitus, have an impact on the gain to be obtained in a seed orchard. The relationships beween ortets and ramets varied but were not as close as those reported from other similar investigations with the exception of those concerning branch angles

Grundlagen und Beispiele

Hardcover, 17x24Der Einfluss des Menschen auf Waldbaumpopulationen weltweit, insbesondere in Mitteleuropa, hat sich bereits heute auf deren genetische Variation ausgewirkt. Genetische Information geht verloren, weil immer mehr Bäume von immer weniger Eltern abstammen. Einige Baumarten sind selten geworden oder in reproduktiv isolierte Populationen zerstückelt. Populationen anderer Arten wurden mit Vermehrungsgut gepflanzt, welches über ökologische Gradienten hinweg verschoben oder durch Introgression aus benachbarten Populationen ursprünglich allopatrischer Arten verändert wurde. Das Ausmaß genetischer Variation in Populationen und deren Differenzierung wird durch Parameter charakterisiert, die für die Planung von Maßnahmen der Erhaltung angemessen großer Genressourcen in situ oder ex situ unentbehrlich sind. Genetische Auswirkungen weithin angewandter forstlicher Maßnahmen einschließlich der Züchtung auf erwünschte Merkmale werden analysiert. Zum Schluss werden genetische Implikationen von Gesetzen betrachtet. In der Öffentlichkeit erfährt die Erhaltung genetischer Ressourcen derzeit leider noch wenig Aufmerksamkeit, obgleich sie das Fundament nachhaltigen Artenschutzes liefert.Man’s impact on forest tree populations worldwide and in Central Europe in particular has affected their genetic variation in the past and will continue to do so. The parental pool of tree populations is becoming smaller, causing loss of genetic information. Some tree species have become rare or fragmented into reproductively isolated populations. Populations of other species were planted from reproductive material that was shifted over ecological gradients or introgressed from neighboring populations of formerly allopatric species. The amount of genetic variation within populations and the differentiation between them is characterised by genetic parameters that are indispensable in designing measures for the conservation of gene resources of sufficient size in situ or ex situ. The genetic consequences of widely used forest operations, including the breeding of trees for desired traits, is analysed. Finally, the genetic implications of legislation are considered. Regrettably, the conservation of genetic resources currently receives little public attention, even though it provides the basis of sustainable species management

Fenologia reprodutiva da Araucaria angustifolia no Brasil.

O estudo da fenologia reprodutiva indica a proporção de indivíduos que contribuem efetivamente na reprodução, além de oferecer informações básicas para a conservação e melhoramento genéticos florestais. Informações sobre a biologia reprodutiva da araucária (Araucaria angustifolia Bert. (O. Ktze.)) são necessárias para elucidar o comportamento reprodutivo em diferentes regiões de ocorrência da espécie. Este trabalho teve por objetivo efetuar observações em teste de procedência de araucária em Colombo-PR no período entre 14 e 16 anos de idade. Os resultados confirmaram que seu ciclo reprodutivo é relativamente longo. Os estágios mais críticos, incluindo a liberação de pólen e a polinização, ocorrem entre setembro e dezembro e os menos críticos entre maio e julho, coincidindo com as temperaturas amenas. A polinização ocorreu durante um curto período de tempo, que variou significativamente entre árvores de ano para ano. A proporção de árvores reprodutivas foi baixa, implicando na redução do tamanho efetivo da população. Mesmo sendo o plantio relativamente jovem, diferenças notórias foram observadas na produção de sementes entre procedências. Recomendam-se observações adicionais em idades mais avançadas para que se possa tirar conclusões definitivas sobre a produção de sementes em árvores de diferentes procedências e a proporção de sexo na população