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EN
The homozygous 657del5 mutation, called Slavic mutation, of the NBS1 gene, causes the Nijmegen Breakage Syndrome (NBS). This syndrome is connected with a high incidence of malignancies in early childhood. A high frequency of NBS heterozygotes was found among patients with melanoma, breast, ovary and prostate cancer. The aim of our research was to determine the frequency of 657del5 mutation of the NBS1 gene in the population of Wielkopolska province. For this purpose, we analysed blood samples from anonymous Guthrie cards. In a group of 2090 newborns from the whole province, we found 16 heterozygous mutation carriers. The frequency of 1/131 is higher than 1/190 reported for populations from other regions in Poland. We observed differential regional distribution of heterozygous 657del5 mutation carriers within the province: among 464 samples from the eastern part of Wielkopolska we found 6 carriers (1/77), in contrast to the southern part without any carrier among 625 samples analysed. The high mean frequency of heterozygous 657del5 mutation (1/131) in Wielkopolska province may be associated with cancer incidence in this region.
EN
Thirteen candidate genes for human obesity were selected for cytogenetic mapping by FISH in the pig genome. Among them, 6 genes were assigned to chromosomes for the first time (NR3C1, GNB3, ADRB1, ADRB2, ADRB3 and UCP1). Location of the other 7 genes (INSIG2, LIPIN1, PLIN, NAMPT, ADIPOQ, UCP2 and UCP3), earlier mapped by somatic cell hybridization or with the use of a radiation hybrid panel, was verified (INSIG2) or more precisely described. The genes were assigned to the following chromosomes: INSIG2 to SSC15q12, LIPIN1 to SSC3q26, NR3C1 to SSC2q29, PLIN to SSC7q15, GNB3 to SSC5q21, NAMPT to SSC9q23, ADIPOQ to SSC13q41, ADRB1 to SSC14q28, ADRB2 to SSC2q29, ADRB3 to SSC15q13-14, UCP1 to SSC8q21-22, and both UCP2 and UCP3 to SSC9p24. Most of the genes were located within known QTL for pig fatness traits.
EN
Twinning in cattle ranges from about 1% for beef breeds to about 4% for dairy breeds. The incidence of double births may have both positive and negative effects, which mainly depends on the purpose for which the cattle are raised. Because of freemartinism, as well as management problems connected e.g. with a greater risk of dystocia and retained placenta, it is an undesirable trait in dairy herds. In beef cattle, however, twinning can considerably increase the efficiency of production. Low heritability, a long generation interval for progeny testing, sex-limited expression and an unfavourable correlation with milk yield make twinning difficult to control by selection. Hence, it is the type of trait for which the identification of the genetic marker - quantitative trait loci (QTL) linkage and the implementation of marker-assisted selection in breeding strategies are expected to be especially beneficial. Searching for QTL influencing the reproductive rate in cattle was performed mainly in the US Meat Animal Research Center twinning herd and in the commercial Norwegian cattle population. Among several genome regions that appear to control twinning and ovulation rates, the most interesting seem to be chromosomes 5, 7, 19 and 23.
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vol. 51
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issue 1
87-94
EN
Linkage and association studies suggested the relationship between alpha-adducin polymorphism (Gly460Trp; rs4961) and genetic susceptibility to salt-sensitivity. However, the currently available results were inconsistent. This study aimed to define quantitatively the association between salt-sensitivity and alpha-adducin Gly460Trp polymorphism in all published case-control studies. Publications from PubMed and other databases were retrieved. The major inclusion criteria were: (1) case-control design; (2) salt-sensitivity confirmed by sodium loading tests, and (3) the distribution of genotypes given in detail. Seven case-control studies fulfilled the inclusion criteria. In total they involved 820 subjects (454 salt-sensitive and 366 non-salt-sensitive). The meta-analysis shows that Gly460Trp polymorphism in general is not significantly associated with salt-sensitivity [OR (95%CI): 1.40 (0.96, 2.04), P = 0.08]. Subgroup analysis showed that the association is statistically significant in Asian people [OR (95%CI):1.33 (1.06, 1.69), P = 0.02] but not in Caucasian people [OR (95%CI):1.98 (0.57, 6.92), P = 0.28]. This indicates that blood pressure response to sodium varies between ethnical groups. More studies based on a larger population are required to evaluate further the role of ?-adducin Gly460Trp polymorphism in salt-sensitive hypertension.
EN
Three approaches to identification of powdery mildew resistance genes in wheat - comparison of reaction patterns based on host-pathogen interaction, chromosomal location of resistance genes by means of genetic and cytogenetic assessment, and molecular identification - are reviewed in this paper. The paper covers publications published mostly in the nineties. The derivation and current status of twenty-five Pm genes in wheat are presented. RAPD, RFLP and STS markers closely linked to some specific resistance genes, from recent reports, are listed. These can be useful to phytopathologists and breeders who are interested in the practical application of wheat powdery mildew resistance genes.
EN
The gene encoding solute carrier family 6 member 14 (SLC6A14) has been considered as a candidate gene affecting human obesity. In this study, full-length cDNA (2237 bp) and DNA sequence (24 541 bp) of the porcine SLC6A14 gene were isolated. The porcine SLC6A14 cDNA contains a 5'-untranslated region of 57 bp, a 3'-untranslated region of 254 bp, and an open reading frame of 1926 bp, encoding a deduced protein of 642 amino acids with a molecular mass of 72. 475 kDa and an isoelectric point of 7.82. The genomic structure of the porcine SLC6A14 gene is similar to mammalian orthologs, particularly in terms of exon size and exon/intron boundaries. It comprises 14 exons and 13 introns. A semi-quantitative RT-PCR showed that the porcine SLC6A14 mRNA expression was tissue-specific. Four SLC6A14 single-nucleotide polymorphisms (SNPs) were identified, and 3 informative SNPs were chosen for genotyping in a White Duroc ? Erhualian resource population with phenotype data of growth and fatness traits. The association analysis showed that the c.1438 G>A nonsynonymous polymorphism was associated with birth weight and 21-day body weight (P < 0.05), while g.7944 A>T was associated with 46-day body weight. Linkage and radiation hybrid mapping assigned SLC6A14 to a region around SW1522 on SSCXp13, which did not fall in the confidence interval of the quantitative trait locus (QTL) for growth and fatness traits on SSCX in the resource population. These results indicate that SLC6A14 is not a positional candidate gene for the QTL affecting fatness and growth traits in pigs.
EN
The objective of this study was to evaluate an association between the polymorphism of the porcine pituitary-specific transcription factor gene (POU1F1, previously called PIT1) and carcass quality in F2 animals (grandparents: Zlotnicka Spotted boars and Polish Large White sows) being a part of experimental material prepared for a QTL mapping project. The analysis covered a total of 188 F2 offspring of 13 males and 67 females (F1 generation). The RsaI PCR/RFLP polymorphism of the POU1F1 gene was identified and the least squares method was used to evaluate the significance of its effect on the value of carcass quality traits. Three POU1F1/RsaI genotypes were identified in F2 porkers: EE (n=32), EF (n=68) and FF (n=88). Twenty-four carcass quality traits were measured after 24 h of cooling. The POU1F1/RsaI genotype proved to have a significant effect on the following traits: weight of ham bone and bacon including ribs, fat thickness at the lower back (point K3), over the loin, and average fat thickness (mean of five measurements). These results confirm that the POU1F1 gene may be linked to the gene/genes affecting fat deposition in the pig carcass. Moreover, pigs with the EE genotype had a greater loin eye area and showed a higher meat weight and content of carcass than animals of both EF and FF genotypes (unsignificant association), which suggests that a further study is necessary to confirm or exclude the effect of the POU1F1 gene on these traits.
EN
Head and neck squamous cell carcinoma (HNSCC) is a heterogeneous group of tumours with various clinical characteristics. These tumours generally exhibit complex karyotypes. Few studies of genomic imbalances have been performed exclusively in subgroups of larynx cancer samples at different stages of the disease. In the present study, chromosomal gains and losses were investigated in 52 larynx tumours, by using comparative genomic hybridization (CGH). The mean number of observed alterations was 37.7 per tumour. The most common sites of losses were 1p, 13q, Xp, and the most common gains were located in 1p, 9q, 16q. The overall number of gains was negatively associated with cancer grading. G1 tumours were also characterized by a higher frequency of deletions in 13q32 and amplifications in 1q23, than tumours in other grades (p < 0.05). The frequency of losses of 13q22 also positively associated with tumour size. There was no association between the frequency of losses in 13q and the presence of lymph node metastases at the time of diagnosis. Another statistically significant association was observed for gains at 1q22-23 and tumour size (p < 0.01). No statistically significant difference in the frequency of most common imbalances was detected between primary tumours with lymph node metastases and those without metastases. In conclusion, we discovered a significant involvement of 13q deletions in the progression of larynx cancer. All the other significant changes observed in the present study were reported previously as being important for HNSCC progression. It seems that multiple genes are disrupted in the process of neoplastic transformation in the larynx, and the networks of events remain to be elucidated.
EN
Each of the seven chromosomes in cucumber (Cucumis sativus L.) was identified using sequential staining with Chromomycin A3 (CMA) and 4-6-diamidino-2-phenylindole (DAPI) as DNA base-specific fluorescent dyes. The present method using enzymatic digestion produced a high level of well-spread early-metaphase chromosome complements. After CMA and DAPI staining, reproducible fluorescence bands were obtained in mitotic prometaphase chromosomes. The CMA staining method made it possible to characterize whole chromosomes from prometaphase to mid-metaphase. Chromosome 1 had the largest and widest CMA-positive (CMA+) band from the proximal region to the interstitial region on the long arm in prometaphase. A large gap separating of the short arm from the long arm was always observed in chromosome 2 during prometaphase. The banding pattern of the short arm was similar to that of the long arm in chromosome 2. Chromosomes 1 and 2 in early metaphase had sharp and large CMA-positive and DAPI-negative (CMA+DAPI-) bands at the pericentromeric regions. In early metaphase, chromosome 3 was characterized by having a narrow CMA+DAPI- band on the pericentromeric region of the short arm. Chromosomes 4 and 5 showed similar chromosome length and had a large CMA+ band at the distal region of the long arm. Chromosome 4 did not show any clear band in the short arm, while chromosome 5 showed a telomeric CMA+ band at the short arm and a clear CMA+DAPI- band at the pericentromeric region. Chromosome 6 had a CMA+ band at the distal region and a weak CMA+ band at the proximal region in each of the arms. Chromosome 7 had an evident CMA+ band in the long arm and a CMA+DAPI- band in the pericentromeric region.
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issue 2
145-151
EN
Two-year pot experiments with three varieties of spring barley were carried out. Water stress (water deficit of soil up to 40% of field water-holding capacity) was employed in four basic growth stages of plants: tillering, shooting (stem extension stage), ear formation and milk maturity. Reactions of the plants to water stress were expressed by a decline in the grain yield of the studied varieties throughout the growing season. The greatest losses in production of spring barley grain due to the experienced water stress of the plants were found at the beginning of ear formation and milk maturity stages of the grain. The sensitivity of the plants to the stress caused by water deficit in the soil during the initial period of their vegetative growth was smaller. Varieties showed significantly different sensitivities to the experienced water stress, depending on the growth stage during which the plants suffered from the stress.
EN
Even though selective tooth agenesis is the most common developmental anomaly of human dentition, its genetic background still remains poorly understood. To date, familial as well as sporadic forms of both hypodontia and oligodontia have been associated with mutations or polymorphisms of MSX1, PAX9, AXIN2 and TGF, whose protein products play a crucial role in odontogenesis. In the present report we described a novel mutation of MSX1, which might be responsible for the lack of 14 permanent teeth in our proband. However, this c.581C>T transition, localized in a highly conserved homeobox sequence of MSX1, was identified also in 2 healthy individuals from the proband's family. Our finding suggests that this transition might be the first described mutation of MSX1 that might be responsible for oligodontia and showing incomplete penetrance. It may also support the view that this common anomaly of human dentition might be an oligogenic trait caused by simultaneous mutations of different genes.
EN
Two-dimensional electrophoresis (2-DE) of soluble proteins and enzymes was performed and specific activities of 5 enzymes (esterase, pectinesterase, acid phosphatase, protease and diaphorase) were determined in stigmas of Lolium multiflorum (Italian ryegrass) treated with self or foreign pollen coat eluates (pc). Also, a low-molecular-weight fraction of the treated self-compatible (SC) and self-incompatible (SI) stigmas was analyzed by high-pressure liquid chromatography (HPLC). The treatment of stigmas with foreign pollen induced the loss of 42% of the control sample proteins in SC plants but only of 5.5% in SI plants. In contrast, the treatment of stigmas with foreign pollen induced the loss of 15% proteins in SC plants and of 29% in SI plants. Specific activities of esterase, pectinesterase and diaphorase were higher in SC than in SI stigmas. The 2-DE enzyme patterns indicated qualitative relationships between the presence of some isoforms of acid phosphatase or protease and the treatment with self or foreign pc in SC and SI stigmas. No changes were observed in HPLC profiles of the low-molecular-weight fraction from SC and SI stigmas treated or not with pc. The presented results revealed different reactions of SC and SI stigmas to the treatment with self or foreign pc. Further investigations may explain if any of the observed reactions represent specific reorientations in the style, facilitating cross- or self-pollination.
EN
Meiotic behavior was analyzed in 6 progenies from 3 artificially induced tetraploid (2n = 4x = 36) sexual genotypes (C31, C41, and C48) of the normally apomictic Brachiaria brizantha (Hochst. ex A. Rich.) Stapf., syn. Urochloa brizantha (Hochst. ex A. Rich.) R. Webster. These are key plants to allow intraspecific hybridization of this important forage species, widely used for pastures in the tropics. The percentage of abnormal cells among the plants ranged from 39.8% to 63.2%. In the single plant derived from C48, only the common meiotic abnormalities typical of polyploids were observed, while in plants derived from C31 and C41, a distinct behavior was found. In the majority of cells of those plants, the chromosomes remained scattered in the cytoplasm in the first division, without forming a metaphase plate. This abnormality blocked chromosome movements at anaphase I. Several micronuclei of various sizes were formed and, after the occurrence of an irregular first cytokinesis, the meiocytes progressed normally to the second division, generating polyads with unbalanced microspores. Pollen viability was not correlated with meiotic abnormalities. The importance of these findings to the Brachiaria breeding program is discussed. The sexual progeny of C48 seems most suitable as female parents to be used in intra- and interspecific hybridization.
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vol. 51
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issue 4
509-514
EN
The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 with PD and age at onset, by using 443 discordant sib pairs in PD from a public dataset (Mayo-Perlegen LEAPS Collaboration). Association with PD was assessed by the FBAT using generalized estimating equations (FBAT-GEE), while the association with age at onset as a quantitative trait was evaluated using the FBAT-logrank statistic. Five SNPs were significantly associated with PD (P < 0.05) in an additive model, and 9 SNPs were associated with PD (P < 0.05) in dominant and recessive models. Interestingly, 8 PD-associated SNPs were also associated with age at onset of PD (P < 0.05) in dominant and recessive models. The SNP most significantly associated with PD and age at onset was rs17649641 (P = 0.015 and 0.021, respectively). Two-SNP haplotypes inferred from rs17563965 and rs17649641 also showed association with PD (P = 0.018) and age at onset (P = 0.026). These results provide further support for the role of MAPT in development of PD.
EN
Molecular approaches to genome analysis in livestock are reviewed by discussing the contribution of molecular genome analysis to the identification of the genetic variation underlying phenotypic variation (structural genome analysis) and to the definition of the trait-associated and environment-affected gene expression (functional genome analysis) as an important prerequisite to understanding the formation of a phenotype. Aspects of using mapped ?quantitative trait loci? (QTL) or gene variants as well as the identified trait-associated and environment-affected gene expression profile in livestock production are expounded.
EN
Fluorescence in situ hybridization (FISH) experiments with specific probes for chromosome 29 and 25 were carried out on a Brown Swiss bull, previously diagnosed as a carrier of 1;29 centric fusion.The hybridization of the chromosome 29-specific probe (BMC 4216-already located on 29q13), produced signals on two small acrocentrics, but not the translocated chromosome.The signals appeared on the translocated chromosome and on a single chromosome 25 after hybridization of the chromosome-specific probe (BMC 3224 -previously located on 25q24).According to the actual nomenclature, the analysed aberration is a robertsonian translocation involving chromosomes 1 and 25.
Genetica Polonica
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1993
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vol. 34
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issue 2
133-138
EN
The subject of the studies were F1 and F2 hybrids originating from reciprocal crosses of the highlysine mutant C-67-7 and cultivar Miranda, the forms with different hordein polypeptide spectra. The method of SDS gel electrophoresis was used for an analysis of the main hordein fractions, hordein-1 and hordein-2, from single kernels of barley. It was found that polypeptide spectra of hordein-1 and hordein-2 of the high lysine mutant C-68-7 are determined by codominant alleles at two loci, which are moderately linked.
EN
Genetical analyses were conducted to find linkages and the locus of the gene calf on the Pisum chromosome map. The recessive, pleiotropic gene calf (enlarged and undulated leaflets, stipules, flowers and pods, plant sterile), artificially induced (the initial line - Large Podded G-20, the mutagene - DES and NMU) was described by Sharma in 1975. An identical mutant gene at the same locus was isolated in our research (the initial line - cv. Pegro, the mutagene - fast neutrons). Two lines were included in the Pisum gene bank - the type line for the gene calf - Wt 15873 and the representative line - Wt 16024. In linkage studies the representative line was crossed with tester lines bearing gene markers. Analyses of dihybrid segregation in F2 generations revealed linkages of the gene calf with chromosome 2 markers. Two isozymic markers helped to reveal the calf locus on chromosome 2 with the following gene order: Orp - Calf - K - Pgm-p - Fum. This is in agreement with the current Pisum linkage map.
EN
The insulin-like growth factor 2 gene (IGF2) has been described in several studies as a candidate gene for meat efficiency in pigs. IGF2 is a member of the growth factors family and has an effect on development of muscle tissue. The effect of IGF2 gene polymorphism on meat efficiency was analysed in a population of 121 Large White pigs. A PCR-based test and RFLP methods were used for detection of genotypes. Allele A, lacking the restriction site, was characterised by the presence of a 0.9-kb fragment. In allele B, the amplimer was cut into a 0.8-kb fragment and some barely detectable fragments. The statistical analysis was carried out according to the General Linear Model procedure. The genotype frequencies observed were: 1.65%, 33.88%, 64.46% for AA, AB and BB genotypes, respectively. There was a significant difference (P 0.05) between the AB and BB genotypes in live weight before the test. A significant association between AB and BB genotypes and body weight before the test was found. No significant difference in other traits of growth and meat efficiency was observed (P > 0.05).
EN
Barley doubled haploids (DH) were examined for their susceptibility to Fusarium head blight caused by Fusarium culmorum. DH lines were derived from F1 Maresi (two-rowed) ? Pomo (six-rowed) hybrids by the 'H. bulbosum' method. Doubled haploids, parental cultivars and F1 and F2 hybrids were inoculated with Fusarium culmorum (W.G.Sm.) Sacc., isolate KF350 under field conditions. The kernel infection score, number of kernels per ear, kernel weight per ear, 1000-kernel weight, and kernel fractions were recorded in inoculated and control plants. Samples of kernels were analysed for presence of nivalenol and deoxynivalenol. In the inoculated plants a reduction of kernel number, kernel weight per ear, 1000-kernel weight and percentage of plump kernels was observed. Generally, inoculation caused a significant decrease in the kernel fraction > 2.5 mm, and increase in the fractions 2.5-2.2 and < 2.2 mm. This tendency was more visible in 2-rowed than in 6-rowed lines. The nivalenol content of inoculated doubled haploids ranged from 0.16 to 7.61 mg/kg, whereas their deoxynivalenol content ranged from 0.000 to 0.253 mg/kg. Significant relationships between the kernel infection score and nivalenol content, kernel yield per ear, 1000-kernel weight and kernel fraction > 2.5 mm were observed. Transgression effects were noted in some DH lines, in which the reduction of kernel characters was lower than in parental cultivars. Doubled haploids with a positive and negative transgression for nivalenol and deoxynivalenol content were also recorded.
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