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Wyświetlanie 1-6 z 6
Tytuł:
Association of the DIO2 gene single nucleotide polymorphisms with recurrent depressive disorder
Autorzy:
Gałecka, Elżbieta
Talarowska, Monika
Orzechowska, Agata
Górski, Paweł
Bieńkiewicz, Małgorzata
Szemraj, Janusz
Powiązania:
https://bibliotekanauki.pl/articles/1039107.pdf
Data publikacji:
2015
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
depressive disorder
iodothyronine deiodinase type II
polymorphism
haplotype
Opis:
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.
Źródło:
Acta Biochimica Polonica; 2015, 62, 2; 297-302
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups.
Autorzy:
Piechota, Janusz
Tońska, Katarzyna
Nowak, Magda
Kabzińska, Dagmara
Lorenc, Anna
Bartnik, Ewa
Powiązania:
https://bibliotekanauki.pl/articles/1041498.pdf
Data publikacji:
2004
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
homoplasy
Polish population
haplogroup
morph
haplotype
mtDNA evolution
Opis:
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.
Źródło:
Acta Biochimica Polonica; 2004, 51, 4; 883-895
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Frequencies of HLA-DQ2 and HLA-DQ8 haplotypes in Czech and Slovak coeliac patients and the healthy population
Autorzy:
Wroblova, Katerina
Kolorz, Michal
Pav, Igor
Horakova, Zuzana
Filipova, Petra
Bartos, Milan
Bartosova, Ladislava
Powiązania:
https://bibliotekanauki.pl/articles/1039366.pdf
Data publikacji:
2014
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
coeliac disease
HLA haplotype
HLA-DQ2
HLA-DQ8
Czech and Slovak population
Opis:
Coeliac disease is an autoimmune disorder with genetic predisposition. The aim was to determine the frequency of HLA-DQ2 and HLA-DQ8 in Czech and Slovak patients and the healthy population. The study included 127 patients and 66 healthy volunteers. HLA-DQ2 was identified in 85.03% patients, and 24.24% healthy individuals (P=0.0001; OR17.7632; CI=8.4347-37.4088). HLA-DQ8 was identified in 11.81% patients and 15.5% healthy individuals. HLA-DQ8 occurred more often in HLA-DQ2-negative patients compared to HLA-DQ2-positive patients (P=0.0494; OR3.5; CI 1.0428-11.7468). At least one of the studied HLA-variants was found more often in patients than in healthy individuals (P=0.0001; OR58.8; CI 7.6856-449.8602).
Źródło:
Acta Biochimica Polonica; 2014, 61, 1; 191-193
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
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
Autorzy:
Witt, M
Varon-Mateeva, R
Reis, A
Rutkiewicz, E
Powiązania:
https://bibliotekanauki.pl/articles/2046681.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
microsatellite marker
chromosome
haplotype
German population
Polish population
autoradiography
Paleolithic origin
mutation
cystic fibrosis
Neolithic origin
Opis:
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.
Źródło:
Journal of Applied Genetics; 1997, 38, 3; 329-334
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Associations between bovine beta-lactoglobulin polymorphism within coding and regulatory sequences and milk performance traits
Autorzy:
Kaminski, S
Zabolewicz, T.
Powiązania:
https://bibliotekanauki.pl/articles/2043147.pdf
Data publikacji:
2000
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
chromosome
polymorphism
promoter
haplotype
beta-lactoglobulin gene
mutation
cattle breeding
amino acid
milk
dairy cattle
protein content
Źródło:
Journal of Applied Genetics; 2000, 41, 2; 91-99
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular studies in osteogenesis imperfecta [OI] II. Evaluation of intragenic polymorphic sites in COL1A1 and COL1A2 loci
Autorzy:
Kostyk, E
Sucharski, P.
Pietrzyk, J.J.
Kruczek, A.
Powiązania:
https://bibliotekanauki.pl/articles/2044212.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
intragenic polymorphic site
polymorphism
haplotype
DNA isolation
COL1A1 gene
electrophoresis
collagen
COL1A2 gene
molecular marker
osteogenesis imperfecta
Opis:
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.
Źródło:
Journal of Applied Genetics; 1998, 39, 4; 349-365
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-6 z 6

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