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  • 1
    Electronic Resource
    Electronic Resource
    Factor X and its deficiency states (1997)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 3 (1997), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. Factor X is one of the vitamin-K-dependent serine proteases. As a result of its position at the convergence of the intrinsic and extrinsic pathways of the clotting cascade, it plays a crucial role in blood coagulation. Factor X interacts with components of both pathways of coagulation, leading to its activation and the formation of the prothrombinase complex.The gene for factor X has been cloned and sequenced and maps to the long arm of chromosome 13, approximately 2.8 kb downstream of the factor VII gene. Each of the exons of factor X encodes a specific functional domain within the protein. In terms of its gene structure and amino acid sequence, factor X shows significant homology with other vitamin-K-dependent clotting factors, suggesting an origin in some common ancestral protein.Factor X deficiency is one of the rarest of the inherited coagulation disorders. Such deficiencies are inherited in an autosomal recessive manner and are characterized by a variable bleeding tendency. In its homozygous form, factor X deficiency has an estimated prevalence of 1:500 000 but in its heterozygous form it has an estimated frequency of ∼1:500 although affected individuals are often clinically asymptomatic.Acquired deficiencies of factor X are uncommon and in isolation are seen most frequently in patients with amyloidosis and in association with upper respiratory tract infections.Treatment of the deficiency state involves factor X replacement with either fresh frozen plasma or prothrombin complex concentrates. However, the latter may be associated with an increased risk of thrombosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.1997.00106.x
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  • 2
    Electronic Resource
    Electronic Resource
    A framework for genetic service provision for haemophilia and other inherited bleeding disorders (2005)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 11 (2005), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  This framework document offers guidance to patients, doctors, nurses, laboratory scientists, funders and hospitals on the provision of clinical and laboratory genetic services for haemophilia. With recent advances in molecular laboratory techniques it is now possible to give the vast majority of individual patients and family members very reliable genetic information. To enable these genetic data to be used for both the optimal treatment of patients with inherited bleeding disorders and for appropriate reproductive decisions in carriers, there needs to be a clear and robust framework for systematically acquiring the necessary clinical, personal, family and laboratory information upon which decisions can be made. This document provides guidance on the range and standards of clinical and laboratory genetic services which should be offered to patients and their families. Included are arrangements for genetic counselling and testing (including consent and confidentially issues), management of early pregnancy, standards for laboratory genetic services, as well as advice on data storage, security and retrieval.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2005.01070.x
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  • 3
    Electronic Resource
    Electronic Resource
    The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation (2004)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 10 (2004), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  The rare coagulation disorders are heritable abnormalities of haemostasis that may present significant difficulties in diagnosis and management. This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV + VIII, FVII, FX, the combined vitamin K-dependent factors, FXI and FXIII. Based on both collective clinical experience and the literature, guidelines for management of bleeding complications are suggested with specific advice for surgery, spontaneous bleeding, management of pregnancy and the neonate. We have chosen to include a section on Ehlers-Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2004.00944.x
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  • 4
    Electronic Resource
    Electronic Resource
    Sequence-tagged-site (STS) markers of arbitrary genes: the utility of black spruce-derived STS primers in other conifers (1998)
    Springer
    Theoretical and applied genetics 97 (1998), S. 735-743 
    Details
    ISSN: 1432-2242
    Keywords: Key words Co-dominant molecular markers ; Expressed sequence tags ; Conifer genes ; Heterologous PCR primers ; Cross-species amplification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Sequence-tagged-site primers, previously developed based upon black spruce (Picea mariana) cDNA sequences, were tested for their ability to direct specific amplification in two individuals of each of 12 additional conifer species. Nearly all (95–97%) of the primers functioned well in congeneric trials, while a lower proportion (21–33%) scored positively in other Pinaceae genera. Outside of the Pinaceae, amplification of homologous products was not achieved. Products from the various species often differed in size from their homologs in black spruce. In one case a large difference in size was due to the lack of an intron in a jack pine product while in several other cases the differences were due to the presence or absence of large direct repeats in the DNA sequences. Length polymorphism was occasionally evident between the two individuals examined of a given species. We investigated marker polymorphism in detail in a panel of 15 white spruce (Picea glauca) trees. Allelic segregation among haploid megagametophytes was revealed directly at 16 loci by standard agarose-gel electrophoresis without any additional manipulation of amplification products. Polymorphisms observed at 12 of these loci were exclusively co-dominant. For this subset of 12 loci, the average number of alleles was 3.2 and the average observed heterozygosity was 0.37.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220050950
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  • 5
    Electronic Resource
    Electronic Resource
    Pollen pool heterogeneity in jack pine (Pinus banksiana Lamb.): a problem for estimating outcrossing rates? (1992)
    Springer
    Theoretical and applied genetics 83 (1992), S. 500-508 
    Details
    ISSN: 1432-2242
    Keywords: Isozyme ; Pollen pool heterogeneity ; Mixed-mating model ; Mating system ; Pinus banksiana Lamb
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Pollen pool heterogeneity, which violates an assumption of the mixed-mating model, is a major potential problem in measuring plant mating systems. In this study, isozyme markers were used to examine pollen pool heterogeneity in two natural populations of jack pine, Pinus banksiana Lamb., in northwestern Ontario, Canada. Population multilocus estimates of outcrossing rate ranged from 0.83 to 0.95 and differed significantly between populations. Single-tree multilocus outcrossing rates were found to be homogeneous among trees in both populations. Computer simulation studies indicated that a consanguineous pollen pool (pollen gametes related to the mother tree) was capable of biasing population outcrossing estimates downward. Random pollen pool heterogeneity (uncorrelated with maternal genotypes) did not appear to affect population outcrossing estimates in the simulations. Heterogeneity G-tests and Spearman rank tests showed that pollen pool heterogeneity existed in the two natural populations examined; however, it did not have a major effect on population outcrossing estimates, since the consanguineous pollen pool detected was probably a relatively minor component of the outcross pollen pool in both populations. In addition, heterogeneity G-tests were found to be not sensitive in detecting pollen pool heterogeneity caused by consanguineous pollen pool.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00226540
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    Paper (German National Licenses)
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