A megváltozott vasanyagcsere genetikai hátterének vizsgálata krónikus májbetegségekben = The genetic background of the changes of iron metabolism in different chronic hepatic disorders

50 porphyria cutanea tardás (PCT) beteg klinikai és genetikai adatainak statisztikai értékelése történt. A HCV infekció 44%-os, ez közepesen gyakorinak mondható a nemzetközi adatokhoz viszonyítva. A HFE gén két mutációja (C282Y, H63D) betegeink 50%-ban kimutatható volt, ez a genetikai defektus PCT kialakulásában játszott szerepét alátámasztja. Vizsgálataink szerint a HCV infekció és a HFE gén mutációi PCT esetén egymástól független rizikófaktorok. A haemochromatosis (HFE) gén mutációinak szerepét vizsgáltuk a krónikus aktív C vírus (HCV) hepatitis esetén - manifeszt haemochromatosis jelenléte nélkül. Betegeinknél a C282Y mutáció allél frekvenciája: (2,87%), a H63D mutáció allél frekvenciája: 14,36% volt. Az allél frekvencia egyik mutáció esetében sem tért el a magyar egészséges populációban leírtaktól. A mutációt hordozó HCV betegeknél a szérum vas szintje és a transferrin szaturáció szignifikánsan magasabb volt mint a HFE gén vadtípusát hordozókban. A HFE gén mutációinak genetikai tesztelése ezen betegekben értékes eredménynek tűnik. Eredményeinkből levonhatói következtetések: PCT-s betegekben ajánlott a HCV és a HFE gén C282Y mutációjának rutinszerű szűrése és a környezetei faktorok közül az alkoholfogyasztás és az ösztrogén szedésének ellenőrzése. A krónikus aktív C-vírus hepatitises betegek esetében a haemochromatosis mutációk szűrésével a kialakuló májkárosodás mértéke talán csökkenthető a fokozott vastárolás esetén a vasraktárak kiürítését célzó kezelésekkel. | The clinical and genomic data from the fifty consecutive patients with porphyria cutanea tarda (PCT) were analysed. HCV infection is a moderately frequent (44%) risk factor among Hungarian PCT patients. 50% of our patients have either a C282Y or H63D mutation. Both HCV infection and HFE gene mutations are probably independent risk factors in Hungarian PCT patients. We examined the role of HFE mutations in patients with chronic active HCV infection without any clinical manifestation of haemochromatosis. Out of these 87 patients the allele frequency for C282Y mutation was 2.87 %, for the H63D 14.36%, the; frequencies were similar to those observed in Hungarian healthy subjects. Serum iron level and transferrin saturation were significantly higher in carriers than in non-carriers of the HFE mutations. The role of genetic screening for mutations in the HFE gene seems quite valuable in these patients. We established from our results the next conclusions: The screening of HCV and C282Y mutation of HFE gene and the control of alcohol abuse and taking estrogen containing medicines are proposed. The genetic screening of haemochromatosis and the reduction of increased iron content of the body may decrease the hepatic failure in the chronic HCV hepatitis

Additional polymorphic microsatellite loci for detailed population genetic studies of Lethrus apterus (Coleoptera: Geotrupidae)

In this study we attempted to isolate 13 additional microsatellites from the beetle Lethrus apterus and then to use them to screen for polymorphisms in 35 specimens collected from the northern Hungarian mountains. The newly developed markers presented in this paper are polymorphic, including between two and seven detected alleles per locus. The observed and expected heterozygosity per locus ranged between 0.057 and 0.686 and between 0.056 and 0.756, respectively, while two loci showed significant deviations from Hardy-Weinberg equilibrium. These deviations can be explained by the presence of null alleles. All loci cross- amplified in at least two out of four congeneric Lethrus species (L. bituberculatus, L. scoparius, L. strymonensis and L. perun). The polymorphic microsatellite markers we present for L. apterus will be valuable for future population genetic studies

Additional polymorphic microsatellite loci for detailed population genetic studies of Lethrus apterus (Coleoptera: Geotrupidae)

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The influence of a hot environment on parental cooperation of a ground-nesting shorebird, the Kentish plover Charadrius alexandrinus

<p>Abstract</p> <p>Background</p> <p>Parental care often increases offspring survival, but is costly to the parents. A trade-off between the cost and benefit of care is expected, so that when care provisioning by both parents is essential for the success of young, for instance in extremely cold or hot environments, the parents should rear their young together. We investigated the latter hypothesis in a ground nesting shorebird, the Kentish plover <it>Charadrius alexandrinus </it>in an extremely hot environment, the Arabian Desert. Midday ground temperature was often above 50°C in our study site in Abu Dhabi (United Arab Emirates), thus leaving the eggs unattended even for a few minute risks overheating and death of embryos.</p> <p>Results</p> <p>Through the use of video surveillance systems we recorded incubation routines of male and female Kentish plovers at 28 nests over a full day (24 h). We show that ambient temperature had a significant influence on incubation behaviour of both sexes, and the relationships are often non-linear. Coordinated incubation between parents was particularly strong in midday with incubation shared approximately equally between the male and the female. The enhanced biparental incubation was due to males increasing their nest attendance with ambient temperature.</p> <p>Conclusions</p> <p>Our results suggest biparental care is essential during incubation in the Kentish plover in extremely hot environments. Shared incubation may also help the parents to cope with heat stress themselves: they can relieve each other frequently from incubation duties. We suggest that once the eggs have hatched the risks associated with hot temperature are reduced: the chicks become mobile, and they gradually develop thermoregulation. When biparental care of young is no longer essential one parent may desert the family. The relaxed demand of the offspring may contribute to the diverse breeding systems exhibited by many shorebirds.</p

Personality assortative female mating preferences in a songbird

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Evaluation of potential reference genes for real-time qPCR analysis in a biparental beetle, Lethrus apterus (Coleoptera: Geotrupidae)

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