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A less severe form of Haemophilia B Leyden.   总被引:5,自引:4,他引:1       下载免费PDF全文
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Gorodilov IuN 《Tsitologiia》2001,43(2):182-203
In 1924 H. Spemann and H. Mangold discovered that a piece of the dorsal lip of a blastopore from Triturus cristatus, after transplantation to the ventral side of another embryo, was able to cause the neighbouring tissues to change their fate and participate in the formation of a new embryo. The dorsal lip was termed "the organizer". Since then, for as long as 75 years, attempts have been made to establish the intimate mechanisms of the organizer activity. However, no real advance was achieved in their understanding. Within the last 15 years, genetic and molecular techniques have been vastly improved, to help in tracing the fate of many cell lineages, and in compiling more exactly the fate maps for different parts of the embryo. Using these data, I have attempted to trace the fate of Spemann's organizer after the early gastrula stage. Analysis of data on inductive abilities of the organizer cells, on the use of markers, and on the observation of expression of specific genes allowed to conclude that Spemann's organizer in amphibia and its homologues in other vertebrates too are heterogeneous: they are composed of distinct cell populations able to induce primarity the development of either the head or trunk parts of the embryo. These population, determined to become the head of the trunk organizers still at the blastula stage, may be located either in the single continuous cell layer (as in amphibia and birds) or separated among different tissue germs (as in mammals). When the dorsal-ventral orientation of the embryo is established and the organizer is switched on the very early invaginating cells of the dorsal blastopore lip (in the case of amphibia) move in advance of the entire invaginating mesoderm and by the end of gastrulation occupy the place just in front of the notochord. It is supposed that the early dorsal lip and the prechordal mesoderm (PCM) are one and the same cell population, i.e. during gastrulation Spemann's organizer transfers from the lip of blastopore to the prechordal zone. The PCM seems to play an exclusive role in the formation of a head in vertebrate, because some mutations in genes expressed in the PCM result in the entire head deletion. It is supposed that spreading of differentiating signals from the PCM occurs along the main body axis in both caudal and rostral directions. After the main body plan formation the PCM is replaced by adenohypophysis. This conclusion is drawn not only from the same topology of both these structures, but also from the similarities of a set of specific genetical markers expressed in these, that makes it possible to suppose the existence of deep connections and succession between them. The adenohypophysis seems to arise directly from the PCM, or cells of the ectoderm influenced by the PCM may be subsequently transformed into humoral cells of adenohypophysis. In this interpretation, adenohypophysis and the much earlier established PCM may be considered as derivatives of Spemann's organizer. This inference is supported by the fact that all the three above structures first originate in vertebrates only.  相似文献   

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It was shown that on comparing variability of selective neutral genetic marker systems with that of the beta-thalassemia system for the populations of different hierarchical level, the relative importance of selection and genetic drift could be evaluated. The genetic differentiation of the beta-thalassemia gene frequencies in elementary populations (villages) could be solely explained by genetic drift. On the other hand, the differentiation of district populations (the sizes of the populations being 10(6] for beta-thalassemia gene frequencies could be explained by selection forces. This is supported by the fact that the genetic distances and FST values are only significant for the beta-thalassemia gene and not for the neutral genetic systems, when the district populations are compared.  相似文献   

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The genetic aspects of microphylogeny of herds of black and white cattle of Asian and European populations have been studied on the basis of distribution analysis of frequency in 62 antigens of 11 systems of blood groups.  相似文献   

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The epidemiological survey of 126 foci with patients having acute hepatitis B (AHB) and 120 foci with patients having chronic hepatitis B (CHB) was conducted. The observation of the susceptible members of the family showed that a significantly higher level of infection was found in persons having contacts with CHB patients (44.4 +/- 2.3%) in comparison with the members of the families of AHB patients (33.2 +/- 2.3%). The study revealed that children under 14 years were actively involved into the epidemic process; in these children the highest levels of infection were observed in the families of AHB patients (40.2 +/- 3.7%) and CHB patients (57.1 +/- 3.5%). High detection rate of HbsAg were noted in brothers and sisters in the foci of AHB (42.3 +/- 6.4%) and the foci of CHB (52.3 +/- 5.4%), also in parents: 32.4 +/- 5.2% and 46.5 +/- 4.2%, in children: 28.8 +/- 3.4% and 35.6 +/- 3.6% respectively.  相似文献   

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The paper presents the methodology of forensic genetics as a synthesis of population genetics and forensic medicine. Main population genetic problems, appearing in calculation of probability statistics and interpretation of the results of forensic genetic investigations, are discussed in detail.  相似文献   

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Zhivotovskiĭ LA 《Genetika》2006,42(10):1426-1436
The paper presents the methodology of forensic genetics as a synthesis of population genetics and forensic medicine. Main population genetic problems, appearing in calculation of probability statistics and interpretation of the results of forensic genetic investigations, are discussed in detail.  相似文献   

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Goldgar DE 《Biochimie》2002,84(1):19-25
A number of relatively rare, high-risk genes have been identified which predispose to common cancers such as breast, colon, and melanoma. Although these are clearly important in the clinical setting, it is also relevant to discuss the impact of these genes at the population level and to contrast these with that which could be ascribed to more common genetic variants which only confer a modest increased risk of cancer. In this review, we examine inferences about the role of genetics in cancer from ecological studies of incidence patterns from a number of population-based studies of familial and attributable risk. The relationship between the genetic model (genotypic risk, allele frequency, mode of inheritance) and the expected impact in the population in terms of both attributable risk and familial risk is presented. The advantages and limitations of using cancer occurrence in twins to measure the genetic contribution to specific cancer sites is discussed. The potential role of lower-penetrance genes in the overall cancer burden may be significant but may pose significant problems in the public health arena.  相似文献   

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Toc75 (translocon at the outer envelope membrane of chloroplasts, 75 kD) is the protein translocation channel at the outer envelope membrane of plastids and was first identified in pea (Pisum sativum) using biochemical approaches. The Arabidopsis (Arabidopsis thaliana) genome contains three Toc75-related sequences, termed atTOC75-I, atTOC75-III, and atTOC75-IV, which we studied using a range of molecular, genetic, and biochemical techniques. Expression of atTOC75-III is strongly regulated and at its highest level in young, rapidly expanding tissues. By contrast, atTOC75-IV is expressed uniformly throughout development and at a much lower level than atTOC75-III. The third sequence, atTOC75-I, is a pseudogene that is not expressed due to a gypsy/Ty3 transposon insertion in exon 1, and numerous nonsense, frame-shift, and splice-junction mutations. The expressed genes, atTOC75-III and atTOC75-IV, both encode integral envelope membrane proteins. Unlike atToc75-III, the smaller atToc75-IV protein is not processed upon targeting to the envelope, and its insertion does not require ATP at high concentrations. The atTOC75-III gene is essential for viability, since homozygous atToc75-III knockout mutants (termed toc75-III) could not be identified, and aborted seeds were observed at a frequency of approximately 25% in the siliques of self-pollinated toc75-III heterozygotes. Homozygous toc75-III embryos were found to abort at the two-cell stage. Homozygous atToc75-IV knockout plants (termed toc75-IV) displayed no obvious visible phenotypes. However, structural abnormalities were observed in the etioplasts of toc75-IV seedlings and atTOC75-IV overexpressing lines, and toc75-IV plants were less efficient at deetiolation than wild type. These results suggest some role for atToc75-IV during growth in the dark.  相似文献   

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The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.  相似文献   

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A Ceriodaphnia has been found inWaterbodies of the plains and foothills of Uzbekistan and southern Kazakhstan that strongly resembles C. reticulata (Jurine, 1820). The female of this new species, C. turkestanica, differs from C. reticulata because it lacks a fenestra (nucal organ) in the cervical notch of the adult, has a rostral pore encircled by a ridge of cuticle rather than opening on the flat surface of a polygon anterior to the antennules, and has fewer and finer spines punctuating the row of fine spinules along the inner margin of the posterior carapace. The locule of the ephippium lacks the regular, small, rounded protuberances seen in the locule of C. reticulata. The male of C. turkestanica also exhibits the lack of a cervical fenestra, an encircled rostral pore, and variable, fine spines along the posterior carapace inner margin. In addition, it has a much shorter terminal seta on the antennule, and increasing lengths of the spinose setae on endites 1–3 of trunk limb I rather than the second being the longest as in C. reticulata. Because of similarities between these species, we suggest that C. turkestanica either is derived from C. reticulata or that the two share a common ancestor.  相似文献   

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Contemporary data on the mechanism of biodegradation of aromatic hydrocarbons and biodegradation genes (genomic organization and pathways of evolution) in diverse groups of microorganisms have been reviewed. Studies of this problem are topical, in view of the need in identification and construction of new strains degrading xenobiotics, particularly those halogenated. For this reason, emphasis is placed on specific features of explored metabolic pathways that can be used for constructing new enzymatic systems not present in nature. Sections on the mechanisms of genomic rearrangements involving biodegradation determinants are presented from the same standpoint. Part of the review is devoted to analyzing methods used for studying the population dynamics of bacterial communities involved in xenobiotic degradation in natural biotopes or industrial waste disposal plants. Particular attention is given to methods of gene systematics.  相似文献   

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