About: Population-genetic study of Balkan endemic nephropathy in Serbia

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An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Population-genetic study of Balkan endemic nephropathy in Serbia
Creator	Cvjeticanin, S Marinkovic, D
Source	PMC
abstract	The study of Balkan endemic nephropathy (BEN) in the affected localities of southern Serbia shows population-genetic difference between samples of BEN affected individuals and control group consisting of non-affected individuals from the same localities. Detailed population-genetic study in village Chepure, which includes 20 large families where BEN is present in 646 (from first to fourth degree) relatives of probands, shows a familial character of disease as well as significant genetic influences in expression of the illness. Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 20 to 30 selected genetically controlled morphophysiological traits in the sample of BEN patients and in the control-healthy group. Assuming that BEN is genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among the patients, could be populationgenetic parameter for the prediction of the illness. Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of mono-and oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test). This population-genetic study did not only show statistically significant difference of the mean values of genetic homozygosity (BEN: 8.7 ± 0.3; control: 7.6 ± 0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits.
has issue date	2007-01-01(xsd:dateTime)
bibo:doi	10.1134/s1022795407080170
has license	no-cc
sha1sum (hex)	57f1e46bdbe8fd8f598d1b9f702e1c0696f23504
schema:url	https://doi.org/10.1134/s1022795407080170
resource representing a document's title	Population-genetic study of Balkan endemic nephropathy in Serbia
has PubMed Central identifier	PMC7089221
schema:publication	Russ J Genet
resource representing a document's body	covid:57f1e46bdbe8fd8f598d1b9f702e1c0696f23504#body_text
is schema:about of	named entity 'patients' named entity 'homozygosity' named entity 'traits' named entity 'POPULATION' named entity 'CHARACTERS' named entity 'TEST' named entity 'NUMEROUS' named entity 'CHARACTER' named entity 'DID' named entity 'BALKAN ENDEMIC NEPHROPATHY' named entity 'FOURTH' named entity 'SOUTHERN' named entity 'APPLIED' named entity 'INCLUDES' named entity 'DISEASE' named entity 'CONSIDERATION' named entity 'POPULATION' named entity 'RELATIVES' named entity 'MONO' named entity 'GENETIC STUDY' named entity 'INDIVIDUAL' named entity '646' named entity 'DEGREE' named entity 'INDIVIDUALS' named entity 'TYPE' named entity 'COMBINATION' named entity 'CONTROL' named entity 'CERTAIN' named entity 'SIGNIFICANT' named entity 'BEN' named entity 'VALUES' named entity 'LARGE' named entity 'CONTROLLED' named entity 'QUALITATIVE' named entity 'INCREASED' named entity 'PREDICTION' named entity 'DETAILED' named entity 'EXPRESSION' named entity 'GENETIC' named entity 'HEALTHY' named entity 'PARAMETER' named entity 'HOMOZYGOSITY' named entity 'RECESSIVE' named entity 'DISTRIBUTION' named entity '8.7' named entity 'HYPOTHESIS' named entity 'DIFFERENCE' named entity 'PROPORTION' named entity 'SCIENTISTS' named entity 'LEVEL' named entity 'MEAN' named entity 'PROBANDS' named entity 'PRESENT' named entity 'PRESENCE' named entity 'SAMPLE' named entity 'CHANGED' named entity 'NON-' named entity 'METHODOLOGY' named entity 'SAMPLES' named entity 'PATIENTS' named entity 'OLIGO' named entity 'SELECTED' named entity 'HUMAN GENETICS' named entity 'SERBIA' named entity 'BALKAN ENDEMIC NEPHROPATHY' named entity 'OUR' named entity 'WHERE' named entity 'COULD BE' named entity '0.3' named entity 'GROUP' named entity 'STATISTICALLY SIGNIFICANT' named entity 'TAKING' named entity 'EXPERIENCE' named entity 'FAMILIAL' named entity 'STUDY' named entity 'ANALYSIS' named entity 'BUT' named entity 'SERBIA' named entity 'ILLNESS' named entity 'COMBINATIONS' named entity 'AFFECTED' named entity 'TRAITS'

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