Wyniki wyszukiwania - Biblioteka Nauki

1

Association of the DIO2 gene single nucleotide polymorphisms with recurrent depressive disorder

100%

Gałecka E. , Talarowska M. , Orzechowska A. , Górski P. , Bieńkiewicz M. , Szemraj J.

Acta Biochimica Polonica

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2015

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tom 62

|

nr 2

297-302

EN

Genetic factors may play a role in the etiology of depressive disorder. The type 2 iodothyronine deiodinase gene (DIO2) encoding the enzyme catalyzing the conversion of T4 to T3 is suggested to play a role in the recurrent depressive disorder (rDD). The current study investigates whether a specific single nucleotide polymorphism (SNP) of the DIO2 gene, Thr92Ala (T/C); rs 225014 or ORFa-Gly3Asp (C/T); rs 12885300, correlate with the risk for recurrent depression. Genotypes for these two single nucleotide polymorphisms (SNPs) were determined in 179 patients meeting the ICD-10 criteria for rDD group and in 152 healthy individuals (control group) using a polymerase chain reaction (PCR) based method. The specific variant of the DIO2 gene, namely the CC genotype of the Thr92Ala polymorphism, was more frequently found in healthy subjects than in patients with depression, what suggests that it could potentially serve as a marker of a lower risk for recurrent depressive disorder. The distribution of four haplotypes was also significantly different between the two study groups with the TC (Thr-Gly) haplotype more frequently detected in patients with depression. In conclusion, data generated from this study suggest for the first time that DIO2 gene may play a role in the etiology of the disease, and thus should be further investigated.

2

O rygorach metodycznych analizowania kopalnego dna i skutkach ich nieprzestrzegania

88%

Witas H. W.

Archeologia Polski

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2015

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tom 60

164-177

EN

An overview of the methods used by the authors of Chapter 5 from a monograph on analysis of the Globular Amphorae culture remains from the Koszyce site 3 (M. Kuś, A. Ossowski 2013) suggests a series of methodological objections. DNA analysis of the same material performed in accordance with generally accepted rigors of ancient DNA research raises doubts about authenticity of the published sequences and their interpretation.

3

Seasonal variability of the Paramecium aurelia complex in the Botanical Garden of the Jagiellonian University, Krakow – in the light of species composition and COI haplotype variation

75%

Przybos E. , Surmacz M. , Tarcz S.

Folia Biologica

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2016

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tom 64

|

nr 4

4

Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups.

75%

Piechota J. , Tońska K. , Nowak M. , Kabzińska D. , Lorenc A. , Bartnik E.

Acta Biochimica Polonica

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2004

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tom 51

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nr 4

883-895

EN

Polymorphisms in mitochondrial DNA (mtDNA) were analyzed in 152 samples from the Polish population using restriction enzymes AvaI, BamHI, HaeII, HpaI and PstI. Additionally, each sample was classified into the appropriate haplogroup. When required, appropriate fragments were sequenced to establish the exact polymorphic sites. We found one new morph for PstI and six new morphs for AvaII. Some detected morphs have previously been described as population specific morphs in different regions of the world. All polymorphisms were classified into 31 different haplotypes. 21 of them were detected in single individuals. The Polish population was compared with other populations from different regions. Moreover, we have obtained evidence for mutation hot spots in the mtDNA coding region. Our results indicate that AvaII morph and haplogroup composition of the Polish population is similar to other European populations and has a distribution typical for this part of the world. However, statistically significant differences in haplogroup composition were found between the Polish population and Italian and Finnish populations.

5

Machine learning for the identification of the DNA variations for diseases diagnosis

75%

Martyna J.

Studia Informatica

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2011

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tom Vol. 32, nr 3B

103-118

EN

In this paper we give an overview of a basic computational haplotype analysis, including the pairwaise association with the use of clustering, and tagged prediction (using Bayesian networks). Moreover, we present several machine learning methods in order to explore the association between human genetic variations and diseases. These methods include the clustering of SNPs based on some similarity measures and selecting of one SNP per cluster, the support vector machines, etc. The presented machine learning methods can help to generate a plausible hypothesis for some classification systems.

PL

W pracy przedstawiono podstawowe metody uczenia maszynowego dla wyboru haplotypów, m.in. asocjacji par z użyciem klastrowania i przewidywania, znaczonego SNP (Single Nucleotide Polimorhisms), maszyny wektorów wspierających (ang. Support Vector Machines, SVM) itp. Metody te znajdują zastosowanie w przewidywaniu chorób. Mogą być także pomocne do generowania prawdopodobnych hipotez dla systemów klasyfikacji chorób.

6

Methylenetetrahydrofolate reductase [MTHFR-677 and MTHFR-1298] genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis

63%

Spiroski I. , Kedev S. , Antov S. , Arsov T. , Krstevska M. , Dzhekova-Stojkova S. , Bosilkova G. , Kostovska S. , Trajkov D. , Petlichkovski A. , Strezova A. , Efinska-Mladenovska O. , Spiroski M.

Acta Biochimica Polonica

|

2008

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tom 55

|

nr 3

587-594

EN

The aim was to investigate different genotypes and haplotypes of methylenetetrahydrofolate reductase (MTHFR-677, -1298) and plasma concentration of total homocysteine (tHcy) in Macedonian patients with occlusive artery disease (OAD) and deep venous thrombosis (DVT). Investigated groups consists of 80 healthy, 74 patients with OAD, and 63 patients with DVT. Plasma tHcy was measured with Microplate Enzyme Immunoassay. Identification of MTHFRgenotypes and haplotypes was done with CVD StripAssay. The probability level (P-value) was evaluated by the Student’s t-test. Plasma concentration of tHcy in CC and CTgenotypes of MTHFR C677T was significantly increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy in ACgenotype of MTHFR A1298C was increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy was significantly increased in AA genotype of patients with OAD, but not in patients with DVT. We found a significant increase of plasma tHcy in patients with OAD in comparison with healthy respondents for normal: heterozygote (CC:AC), heterozy-gote:normal (CT:AA), and heterozygote: heterozygote (CT:AC) haplotypes. Plasma concentration of tHcy in patients with DVT in comparison with healthy respondents was significantly increased for normal:normal (CC:AA), normal heterozygote (CC:AC), and heterozygote: heterozygote (CT:AC) haplotypes. We conclude that MTHFR C677T and MTHFR A1289C genotypes and haplotypes are connected with tHcy plasma levels in Macedonian patients with OAD and DVT.

7

New haplotypes of Trypanosoma evansi identified in dromedary camels from Algeria

63%

Boutellis A. , Bellabidi M. , Benaissa M. H. , Harrat Z. , Brahmi K. , Drali R. , Kernif T.

Acta Parasitologica

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2021

|

tom 66

|

nr 1

8

Gene polymorphisms of novel immunotolerant molecule BTLA: distribution of alleles, genotypes and haplotypes in Polish Caucasian population

63%

Partyka A. , Woszczyk D. , Strzala T. , Szczepanska A. , Tomkiewicz A. , Frydecka I. , Karabon L.

Archivum Immunologiae et Therapiae Experimentalis

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2015

|

tom 63

|

nr 1

9

Genetic variability in European populations of Coregonus lavaretus (L.): an assessment based on mitochondrial ND-1 gene haplotypes

63%

Kempter J. , Kohlmann K. , Panicz R. , Sadowski J. , Keszka S.

Archives of Polish Fisheries

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2010

|

tom 18

|

nr 4

10

Potential refugia in Qinghai-Tibetan Plateau revealed by the phylogeographical study of Swertia tetraptera (Gentianaceae)

63%

Yang L.-C. , Zhou G.-Y. , Li C.-L. , Song W.-Z. , Chen G.-C.

Polish Journal of Ecology

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2011

|

tom 59

|

nr 4

EN

We studied the phylogeography of Swertia tetraptera Maxim, which is an annual herbaceous plant endemic to the Qinghai-Tibetan Plateau (QTP), by sequencing one intergenic chloroplast spacer, trnL-trnF (773 bp). The sampling design included 35 populations and 399 individuals, and spanned the entire distribution of the species. Forty-four haplotypes were characterized, and one of them was widely distributed in all of the populations. The level of differentiation among the populations studied was relatively low (GST = 0.128). Estimates of NST -GST for populations of S. tetraptera indicated that no phylogeographical structure exists, which was supported by the distribution of haplotypes. The neutrality test, mismatch distribution and a ‘star-like’ genealogy all suggested that this species experienced population expansion. According to the number of rare haplotype and geological evidence, this study suggested that two potential refugia existed during the last glaciation: the first refugium was identified in a restricted semi-continuous area around the eastern margin of the plateau; the second refugium was located in the central of QTP. In fact, the findings of our study are somewhat similar as the third phylogeographical structure occurring in the QTP, that is, alpine plants have refugia not only in the edge area but also in the Plateau platform. However, the location of plateau edge and plateau platform refugia is very different among them due to the difference of species-specific characteristic such as distributional range and life history traits.

11

Identification of a new haplotype within the promoter region of the MSTN gene in horses from five of the most common breeds in Poland

63%

Stefaniuk M. , Kaczor U. , Augustyn R. , Gurgul A. , Kulisa M. , Podstawski Z.

Folia Biologica

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2014

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tom 62

|

nr 3

12

Impact of LEP and LEPR gene polymorphisms on functional traits in Polish Holstein-Friesian cattle

63%

Komisarek J.

Animal Science Papers and Reports

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2010

|

tom 28

|

nr 2

EN

Five single nucleotide polymorphisms in leptin and leptin receptor genes were analysed for their possible impact on estimating breeding values for somatic cell count score (SCS) in milk, longevity and reproductive traits. Used were 309 active Polish Holstein-Friesian bulls. The LEP-C(-963)T,LEP-Y7F, LEP-R25C, LEP-A80V, and LEPR-T945M genotypes were identified using the PCRRFLP method. For linked leptin mutations, the additional haplotype analysis was performed. The results obtained suggest that three polymorphisms of bovine LEP gene may be associated with nonreturn rate in cows. The most significant effect was found for LEP-A80V. Moreover, the LEPRT945M mutation seemed to be related to the age at first insemination.

PL

Analizowano pięć polimorfizmów w genach leptyny i receptora leptyny pod względem ich wpływu na szacowaną wartość hodowlaną dla zawartości komórek somatycznych w mleku, długowieczności oraz cech reprodukcyjnych. Badania prowadzono w grupie 309 buhajów hodowlanych rasy polskiej holsztyńsko-fryzyjskiej. Genotypy w loci LEP-C(-963)T, LEP-Y7F, LEP-R25C, LEP-A80V i LEPRT945M identyfikowano metodą PCR-RFLP. Dla sprzężonych mutacji w genie leptyny przeprowadzono dodatkową analizę haplotypów. Uzyskane wyniki wskazują, że trzy polimorfizmy w genie LEP mogą być związane ze wskaźnikiem niepowtarzalności rui u krów, przy czym najistotniejszy efekt wykryto dla LEPA80V. Ponadto, mutacja LEPR-T945M może mieć wpływ na wiek pierwszego unasienienia.

13

Genetic diversity of the non-native crab Rhithropanopeus harrisii (Brachyura: Panopeidae) in the Polish coastal waters − an example of patchy genetic diversity at a small geographic scale

63%

Hegele-Drywa J. , Thiercelin N. , Schubart C. D. , Normant-Saremba M.

Oceanological and Hydrobiological Studies

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2015

|

tom 44

|

nr 3

14

Haplotypes of microsatellite markers of the CFTR gene in Polish and German CF chromosomes suggest an ancient origin of the most frequent cystic fibrosis mutations

63%

Witt M. , Varon-Mateeva R. , Reis A. , Rutkiewicz E.

Journal of Applied Genetics

|

1997

|

tom 38

|

nr 3

EN

In this study we have analysed haplotypes of microsatellite markers of the CFTR gene: IVS8CA, IVS17BTA, IVS17BCA in 17 CF chromosomes of Polish origin and in 19 chromosomes of German origin bearing CF mutations other than ΔF508. In the Polish population, the G542X mutation is connected with haplotypes 16/17-28/32/38-13; in the German population, a more diverse haplotype association has been detected (23-33-13 and 16-32-13). The 1717-1G->A mutation is associated with the 15/16-7-13 haplotype in the Polish population, like the G551D mutation in Germany. The only analysed case of N1303K of Polish origin is connected with the 23-30-13 haplotype, like in the German population. One N1303K chromosome of an entirely different haplotype (16-29-17) turned out to be of Greek origin. These data suggest an ancient, Palaeolithic or Neolithic origin of these mutations in the territory of current Northern Europe.

15

Molecular studies in osteogenesis imperfecta [OI] II. Evaluation of intragenic polymorphic sites in COL1A1 and COL1A2 loci

63%

Kostyk E. , Sucharski P. , Pietrzyk J. J. , Kruczek A.

Journal of Applied Genetics

|

1998

|

tom 39

|

nr 4

EN

The goal of the study was to evaluate intragenic polymorphic sites in COL1A1 and COL1A2 loci. For COL1A1 the following intragenic markers were used: PCR-RFLP (COL1A1), G/A polymorphism in exon 45 of COL1A1 and C/T polymorphism in +88 position of COL1A1 non-translatable 3’ end. For COL1A2 PCR-VNTR was analyzed. 17 families were examined (6 of the "simplex" type and 11 of the "multiple" type). In 8 out of 11 "multiplex" families the segregation of the markers revealed correlation with OI, whereas the other 3 were non-informative. The method was not useful in "simplex" families.

16

Mitochondrial DNA differentiation in chamois [genus Rupicapra]: implications for taxonomy, conservation, and management

63%

Hammer S. , Nadlinger K. , Hartl G. B.

Acta Theriologica. Supplement

|

1995

|

nr 03

EN

Restriction fragment length polymorphisms (RFLPs) of mitochondrial (mt) DNA were used for investigating genetic differentiation in chamois (genus Rupicapra). Digestion of the mtDNAs of 58 individuals from 6 populations with a battery of 16 six-base cutting (restriction endonucleases yielded a total of 67 restriction sites. Based on the presence and absence of these restriction sites a total of 8 haplotypes could be defined. Six of them served for assessing genetic diversity within and among 4 local populations of R. rupicapra rupicapra. Estimates of nucleotide divergence among those haplotypes ranged from 0.05% to 0.25%. One chamois from the High Tatra (subspecies R. r. tatrica) was examined and showed the standard haplotype found in R. r. rupicapra. MtDNA in chamois from Catalunya, belonging to R. pyrenaica pyrenaica, was polymorphic for two haplotypes not found in any population of R. rupicapra. Mean nucleotide divergence among haplotypes found in R. rupicapra and R. pyrenaica was 0.56% (SD = 0.16%). Based on this value, an estimated divergence time of about 280 000 years suggests that the mtDNA lineages of R. rupicapra and R. pyrenaica separated prior to the Riss glacial in the later Pleistocene.

17

Associations between bovine milk protein genotypes and haplotypes and the breeding value of Polish Black-and-White bulls

63%

Kaminski S. , Rymkiewicz-Schymczyk J. , Wojcik E. , Rusc A.

Journal of Animal and Feed Sciences

|

2002

|

tom 11

|

nr 2

18

Human leukocyte antigens as psoriasis inheritance and susceptibility markers

63%

Szczerkowska-Dobosz A.

Archivum Immunologiae et Therapiae Experimentalis

|

2005

|

tom 53

|

nr 5

19

Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups

63%

Piechota J. , Tonska K. , Nowak M. , Kabzinska D. , Lorenc A. , Bartnik E.

Acta Biochimica Polonica

|

2004

|

tom 51

|

nr 4

EN

Polymorphisms in mitochondrial DNA (mtDNA) were analyzed in 152 samples from the Polish population using restriction enzymes AvaI, BamHI, HaeII, HpaI and PstI. Additionally, each sample was classified into the appropriate haplogroup. When required, appropriate fragments were sequenced to establish the exact polymorphic sites. We found one new morph for PstI and six new morphs for AvaII. Some detected morphs have previously been described as population specific morphs in different regions of the world. All polymorphisms were classified into 31 different haplotypes. 21 of them were detected in single individuals. The Polish population was compared with other populations from different regions. Moreover, we have obtained evidence for mutation hot spots in the mtDNA coding region. Our results indicate that AvaII morph and haplogroup composition of the Polish population is similar to other European populations and has a distribution typical for this part of the world. However, statistically significant differences in haplogroup composition were found between the Polish population and Italian and Finnish populations.

20

Phylogenetic relationships among the European and American bison and seven cattle breeds reconstructed using the BovineSNP50 Illumina Genotyping BeadChip

51%

Pertoldi C. , Tokarska M. , Wojcik J. M. , Kawalko A. , Randi E. , Kristensen T. N. , Loeschcke V. , Coltman D. , Wilson G. A. , Gregersen V. R. , Bendixen C.

Acta Theriologica

|

2010

|

tom 55

|

nr 2

97-108

EN

Here we present the first attempt to use the BovineSNP50 Illumina Genotyping BeadChip for genome-wide screening of European bison Bison bonasus bonasus (EB), two subspecies of American bison: the plains bison Bison bison bison (PB), the wood bison Bison bison athabascae (WB) and seven cattle Bos taurus breeds. Our aims were to (1) reconstruct their evolutionary relationships, (2) detect any genetic signature of past bottlenecks and to quantify the consequences of bottlenecks on the genetic distances amongst bison subspecies and cattle, and (3) detect loci under positive or stabilizing selection. A Bayesian clustering procedure (STRUCTURE) detected ten genetically distinct clusters, with separation among all seven cattle breeds and European and American bison, but no separation between plain and wood bison. A linkage disequilibrium based program (LDNE) was used to estimate the effective population size (N e) for the cattle breeds; N e was generally low, relative to the census size of the breeds (cattle breeds: mean N e = 299.5, min N e = 18.1, max N e = 755.0). BOTTLENECK 1.2 detected signs of population bottlenecks in EB, PB and WB populations (sign test and standardized sign test: p = 0.0001). Evidence for loci under selection was found in cattle but not in bison. All extant wild populations of bison have shown to have survived severe bottlenecks, which has likely had large effects on genetic diversity within and differentiation among groups.