LLaMA
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Alport syndrome (AS) is a genetically heterogeneous hereditary renal disease. X-Linked AS (XLAS) is responsible for 80% to 85% of familial cases and is caused by mutations in the COL4A5 collagen gene. To date, indirect molecular diagnosis for XLAS is not well defined, and mutation screening of the COL4A5 gene is time consuming and complicated because of its large size and high allelic heterogeneity. Our aim is to facilitate XLAS genetic testing. METHODS: For linkage analysis, we tested the applicability of 4 microsatellite markers defining a 1.2-megabase region flanking the COL4A5 gene. For mutation screening of the COL4A5 gene, we describe a new strategy based on direct sequencing of hair root COL4A5 messenger RNA (mRNA). RESULTS: Three microsatellite markers proved accurate (DXS1120, DXS6802, and DXS1210) and 1 was discarded (DXS6797) because it was difficult to interpret. The mutation screening method provides results in 4 days, and when applied to 29 patients suspected of having XLAS, it identified mutations in 76% (22 of 29 patients). This study correlates COL4A5 mutations with effects at the mRNA level and suggests that mutations affecting mRNA splicing of the COL4A5 gene (41%; 9 of 22 patients) are more common than previously described. Many splicing mutations did not alter the canonical 5' and 3' splice sites. CONCLUSIONS: A more reliable linkage analysis and a simple, fast, and efficient mutation screening are now available for the genetic testing of patients with XLAS.
- MeSH
- dědičná nefritida diagnóza genetika MeSH
- genetická vazba genetika MeSH
- genetické testování metody MeSH
- kolagen typu IV genetika MeSH
- komplementární DNA genetika MeSH
- lidé MeSH
- mikrosatelitní repetice genetika MeSH
- RNA genetika MeSH
- sekvenční analýza DNA metody MeSH
- vlasový folikul fyziologie MeSH
- Check Tag
- lidé MeSH
Cytogenetic chromosome maps offer molecular tools for genome analysis and clinical cytogenetics and are of particular importance for species with difficult karyotypes, such as camelids (2n = 74). Building on the available human-camel zoo-fluorescence in situ hybridization (FISH) data, we developed the first cytogenetic map for the alpaca (Lama pacos, LPA) genome by isolating and identifying 151 alpaca bacterial artificial chromosome (BAC) clones corresponding to 44 specific genes. The genes were mapped by FISH to 31 alpaca autosomes and the sex chromosomes; 11 chromosomes had 2 markers, which were ordered by dual-color FISH. The STS gene mapped to Xpter/Ypter, demarcating the pseudoautosomal region, whereas no markers were assigned to chromosomes 14, 21, 22, 28, and 36. The chromosome-specific markers were applied in clinical cytogenetics to identify LPA20, the major histocompatibility complex (MHC)-carrying chromosome, as a part of an autosomal translocation in a sterile male llama (Lama glama, LGL; 2n = 73,XY). FISH with LPAX BACs and LPA36 paints, as well as comparative genomic hybridization, were also used to investigate the origin of the minute chromosome, an abnormally small LPA36 in infertile female alpacas. This collection of cytogenetically mapped markers represents a new tool for camelid clinical cytogenetics and has applications for the improvement of the alpaca genome map and sequence assembly.
- MeSH
- genetické markery * MeSH
- hybridizace in situ fluorescenční MeSH
- karyotypizace metody MeSH
- lamy genetika MeSH
- mapování chromozomů metody MeSH
- pohlavní chromozomy genetika MeSH
- srovnávací genomová hybridizace MeSH
- umělé bakteriální chromozomy MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
This study was performed with the aim of investigating the concentration of zinc and copper in the blood of healthy alpacas (Vicugna pacos) kept in central Europe and to compare the concentration of Zn and Cu in plasma and in whole blood. A further objective was to evaluate blood Zn and Cu in relation to different micromineral supplementation, age and sex groups of alpacas. A total of 299 alpacas (224 adults and 75 crias) from 18 farms were included in this study. The concentrations of copper and zinc in plasma/whole blood were measured by flame atomic absorption spectrometry. The results of this study show high individual variability in plasma Zn (median 3.54, range 1.56-8.01 μmol/l), whole blood Zn (median 10.01, range 6.23-75.0 μmol/l), plasma Cu (median 7.53, range 2.93-16.41 μmol/l) and whole blood Cu (median 6.33, range 3.02-13.95 μmol/l). Plasma Zn was not significantly influenced by sex, age or feeding group. Whole blood Zn was only significantly higher in females than in males. The intake of Zn in all groups was equal to or higher than the nutritional recommendation. During excessive supplementation, Zn absorption decreased and thus blood Zn did not reflect the higher intake. Only a weak correlation was found (Spearman correlation coefficient r = 0.384; p > 0.01; n = 204) between plasma and whole blood Zn concentrations. Plasma copper concentration was significantly influenced by age, sex and feeding; whole blood Cu by age and feeding. However, neither plasma Cu nor whole blood Cu reflected the intake of the element. We found a close correlation between plasma and blood copper concentrations (Spearman correlation coefficient r = 0.9043; p ≤ 0.01; n = 99). According to our results, copper in plasma or blood is not a good indicator of copper intake.
- MeSH
- lamy krev MeSH
- měď aplikace a dávkování krev MeSH
- zinek aplikace a dávkování krev MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
Neospora caninum and Toxoplasma gondii are the protozoan parasites with definitive hosts from order Carnivora. Due to vertical transmission, both parasites can cause abortions and neonatal mortality that lead to significant productive and economic losses in the domestic ruminants. The aim of this study was to describe N. caninum and T. gondii seroprevalence in the group of frequently farmed captive exotic ruminants (n = 184) including Bovidae (barbary sheep, bezoar goat, common eland, American bison, water buffalo, and yak) and Camelidae (bactrian camel, guanaco, llama, and alpaca). Antibodies were tested by indirect fluorescent antibody test (IFAT) and enzyme-linked immunosorbent assay (ELISA). Higher prevalence of T. gondii antibodies (31% in IFAT and 52% in ELISA) was detected compared to N. caninum (24% in IFAT and 17% in cELISA). Mixed infection was found in 18 (10%) and 22 (12%) animals by IFAT and ELISA, respectively. Higher seroprevalence of both N. caninum and T. gondii was found in Camelidae compared to Bovidae. To author knowledge, this is the first detection of T. gondii and N. caninum antibodies in common elands and bezoar goats.
- MeSH
- ELISA veterinární MeSH
- fluorescenční protilátková technika nepřímá veterinární MeSH
- kokcidióza epidemiologie parazitologie veterinární MeSH
- Neospora imunologie MeSH
- prevalence MeSH
- přežvýkavci parazitologie MeSH
- séroepidemiologické studie MeSH
- Toxoplasma imunologie MeSH
- toxoplazmóza zvířat epidemiologie parazitologie MeSH
- velbloudovití parazitologie MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
