Genetic polymorphism Dotaz Zobrazit nápovědu
Sex-limited polymorphism has evolved in many species including our own. Yet, we lack a detailed understanding of the underlying genetic variation and evolutionary processes at work. The brood parasitic common cuckoo (Cuculus canorus) is a prime example of female-limited color polymorphism, where adult males are monochromatic gray and females exhibit either gray or rufous plumage. This polymorphism has been hypothesized to be governed by negative frequency-dependent selection whereby the rarer female morph is protected against harassment by males or from mobbing by parasitized host species. Here, we show that female plumage dichromatism maps to the female-restricted genome. We further demonstrate that, consistent with balancing selection, ancestry of the rufous phenotype is shared with the likewise female dichromatic sister species, the oriental cuckoo (Cuculus optatus). This study shows that sex-specific polymorphism in trait variation can be resolved by genetic variation residing on a sex-limited chromosome and be maintained across species boundaries.
- MeSH
- biologická evoluce MeSH
- fenotyp MeSH
- molekulární evoluce MeSH
- pigmentace genetika MeSH
- pohlavní dimorfismus MeSH
- polymorfismus genetický * MeSH
- ptáci genetika MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Random amplified polymorphic DNA (RAPD) was used to detect intraspecific diversity for the Leishmania donovani complex. Fifty-two decameric to 21-meric primers of arbitrary sequence were applied to 15 strains that belong to nine zymodemes. Strains belonging to the species L. major and L. tropica were used as outgroups. A total of 902 amplicons generated by RAPD were scored. Most primers produced species-specific profiles, only 0.6% amplicons were shared by all species, while 4.3% amplicons were common for all 15 strains of the L. donovani complex. Well-supported trees have been constructed, which show a rather strong correlation between the genetic polymorphism of studied strains and their geographic origin. In all obtained trees, L. infantum was paraphyletic. The RAPD profiles suggest that MON-30 belongs to L. donovani. Moreover, the genetic distance between the L. archibaldi strain and other leishmanias does not warrant existence of a separate species.
- MeSH
- DNA primery MeSH
- druhová specificita MeSH
- fylogeneze MeSH
- genetická variace MeSH
- Leishmania donovani klasifikace genetika MeSH
- leishmanióza kožní epidemiologie parazitologie MeSH
- leishmanióza viscerální epidemiologie parazitologie MeSH
- lidé MeSH
- polymorfismus genetický * MeSH
- protozoální DNA MeSH
- technika náhodné amplifikace polymorfní DNA metody MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Afrika epidemiologie MeSH
- Evropa epidemiologie MeSH
- Indie epidemiologie MeSH
- Názvy látek
- DNA primery MeSH
- protozoální DNA MeSH
One-dimensional polyacrylamide gel electrophoresis (1D PAGE) followed by immunoblotting revealed genetic polymorphism of GC protein in sheep (variants F, S, V) and mouflon (variants F and S, apparently identical to F and S of sheep). The frequency of Gcs allele ranged from 0.84 to 1.0 in the 12 breeds of sheep studied. GcV allele was observed only in Tsigai breed with a frequency of 0.017.
- MeSH
- alely MeSH
- elektroforéza v polyakrylamidovém gelu MeSH
- frekvence genu MeSH
- genetická variace MeSH
- kozy genetika MeSH
- ovce genetika MeSH
- polymorfismus genetický * MeSH
- protein vázající vitamin D genetika MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- protein vázající vitamin D MeSH
- MeSH
- alely MeSH
- alkoholické nemoci jater enzymologie genetika MeSH
- cytochrom P-450 CYP2E1 genetika metabolismus MeSH
- DNA primery genetika MeSH
- lidé MeSH
- nádory enzymologie genetika MeSH
- polymerázová řetězová reakce MeSH
- polymorfismus délky restrikčních fragmentů MeSH
- polymorfismus genetický * MeSH
- sekvence nukleotidů MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- cytochrom P-450 CYP2E1 MeSH
- DNA primery MeSH
The majority of human P450 dependent drug metabolism is carried out by polymorphic enzymes which can alter plasma concentration of the pharmacological active substance followed by an enhanced or suppressed pharmacological effect. The response of individual patients to drugs can be affected by variations in DNA sequence mainly by single nucleotide polymorphisms (SNPs). Knowledge of functionally important SNPs prior to the drug administrations may assist in the development of individualized pharmacotherapy avoiding unexpected drug responses, such as harmful adverse drug reactions or treatment failures. This review discusses both the basic characteristics of the major polymorphic cytochrome P450 enzymes and examines the pharmacogenetic methods employed to estimate metabolic status. We will focus mainly on the basic principles of genotyping assays involving molecular biology tools.
- MeSH
- aromatické hydroxylasy genetika MeSH
- cytochrom P-450 CYP2D6 genetika MeSH
- cytochrom P450 CYP2C19 MeSH
- fenotyp MeSH
- genotyp MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- oxygenasy se smíšenou funkcí genetika MeSH
- polymorfismus genetický * MeSH
- polymorfismus konformace jednovláknové DNA MeSH
- systém (enzymů) cytochromů P-450 genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Názvy látek
- aromatické hydroxylasy MeSH
- CYP2C19 protein, human MeSH Prohlížeč
- cytochrom P-450 CYP2D6 MeSH
- cytochrom P450 CYP2C19 MeSH
- oxygenasy se smíšenou funkcí MeSH
- systém (enzymů) cytochromů P-450 MeSH
Gender differences in CAD have been clearly documented, and sex hormones have been recognized to influence the risk of CAD. The cytochrome P450c17alpha gene (CYP17) and the CYP19 gene influence concentrations of sex hormones. In this cross-sectional association study we tested the hypothesis whether the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene are genetic markers for CAD in Caucasians. The TT genotype of the CYP17 gene polymorphism was not associated with premature CAD in men and women combined (OR 0.9; 95% CI = 0.6-1.4; P = 0.7), in men only (OR 1; 95% CI = 0.6-1.8; P = 0.7), and in women only (OR 0.8; 95% CI = 0.5-1.4; P = 0.4). The tetranucleotide repeat (TTTA) CYP19 gene polymorphism was not associated with premature CAD. Moreover, the genotypes containing the longer alleles (A6 or A7) were not associated with a lower incidence of CAD, and the genotypes containing the shorter alleles (A1 or A2) were not over-represented in the CAD patients. We may conclude that in Caucasian subjects neither the T/C CYP17 gene polymorphism nor the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene contributes to the genetic susceptibility to CAD, therefore they may not be used as genetic markers for CAD risk assessment.
- MeSH
- alely MeSH
- aromatasa genetika MeSH
- běloši genetika MeSH
- genetické markery genetika MeSH
- genotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- mikrosatelitní repetice genetika MeSH
- nemoci koronárních tepen etnologie genetika MeSH
- polymorfismus genetický * MeSH
- steroid-17-alfa-hydroxylasa genetika MeSH
- studie případů a kontrol MeSH
- věk při počátku nemoci MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- aromatasa MeSH
- genetické markery MeSH
- steroid-17-alfa-hydroxylasa MeSH
PROBLEM: Up to 20% of pregnancies end in the first trimester by spontaneous abortion, but a significant number remains unexplained. The aim of this study is to investigate the role of variants within the gene for apolipoprotein E (APOE) in the genetic determination of spontaneous abortions. METHOD OF STUDY: We collected DNA from 410 tissue samples of spontaneous abortions, and APOE was genotyped by PCR-RFLP method. The frequencies were compared with a population sample of adults (N = 2606) and with a positive control (1060 women with at least two children). RESULTS: The frequencies of the APOE genotypes in abortions (APOE2E2 + E3E2 = 0.132; APOE3E3 = 0.661; APOE3E4 + E4E4 = 0.195; APOE4E2 = 0.012) did not significantly differ (P = 0.604) from the frequencies in analyzed adult population study (APOE2E2 + E3E2 = 0.132; APOE3E3 = 0.686; APOE3E4 + E4E4 = 0.169; APOE4E2 = 0.014) or from the positive control (APOE2E2 + E3E2 = 0.133; APOE3E3 = 0.691; APOE3E4 + E4E4 =0.166; APOE4E2 = 0.010; P = 0.592). CONCLUSION: Our study suggests that APOE may not be associated with spontaneous abortions in Caucasians.
- MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- polymorfismus genetický * MeSH
- samovolný potrat genetika MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The distribution of C4 phenotypes and gene frequencies were studied in 104 genetically unrelated persons of Slovakia using high-voltage agarose gel electrophoresis with subsequent immunofixation. Five C4A alleles and three C4B alleles were detected. The gene frequencies were as follows: A2 = 0.0576, A3 = 0.7644, A4 = 0.0336, A6 = 0.0625, AQ0 = 0.817, B1 = 0.7836, B2 = 0.1009, BQ0 = 0.1153. The C4AQ0 and C4BQ0 alleles established by densitometry appeared in the Slovak population in 16.34% and 23.07%, respectively.
- MeSH
- běloši MeSH
- dospělí MeSH
- fenotyp MeSH
- frekvence genu MeSH
- komplement 4 analýza genetika MeSH
- komplement C4a MeSH
- komplement C4b MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- polymorfismus genetický genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Československo etnologie MeSH
- Názvy látek
- komplement 4 MeSH
- komplement C4a MeSH
- komplement C4b MeSH
- MeSH
- alely MeSH
- antigeny krevních skupin MeSH
- genetika MeSH
- inbreeding * MeSH
- kur domácí MeSH
- polymorfismus genetický * MeSH
- proteiny * MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- antigeny krevních skupin MeSH
- proteiny * MeSH
The distribution of factor B (Bf) phenotypes and gene frequencies were investigated in 280 genetically unrelated persons of the Slovak population. Thin-layer agarose gel high-voltage electrophoresis and subsequent immunofixation were used. A low frequency of the "rare" allele BfFl was observed (BfFl = 0.0017). The frequencies of common Bf alleles BfS and BfF (BfS = 0.816, BfF = 0.1625) and a "rare" allele BfSO.7 (BfSO.7 = 0.0178) were inside the corresponding ranges of BfS, BfF and BfSO.7 found in European Caucasoids. No other variants were observed.
- MeSH
- alely MeSH
- elektroforéza v agarovém gelu MeSH
- fenotyp MeSH
- frekvence genu genetika MeSH
- komplement - faktor B genetika MeSH
- lidé MeSH
- polymorfismus genetický * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Československo MeSH
- Názvy látek
- komplement - faktor B MeSH