EurekaMag.com logo
+ Site Statistics
References:
48,253,228
Abstracts:
22,798,842
+ Resolve Accession
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
Submit PDF Full TextSubmit PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on Google+Follow on Google+
Follow on LinkedInFollow on LinkedIn

+ Translate

The molecular pathology of hemophilia


, : The molecular pathology of hemophilia. Qjm 63(242): 473-492

The great success of recombinant DNA technology in unravelling the pathology of the thalassaemias at a molecular level has encouraged the application of these methods to other single gene disorders of man in the hope of gaining a deeper insight into the biochemical defects underlying them. An example of this approach is provided by the sex-linked recessive disorders of blood clotting: haemophilia and Christmas disease. These clinically indistinguishable, life-long disorders result from the deficiency or abnormality of the clotting proteins factor VIII and factor IX, respectively, which both participate in the activation of factor X in the intrinsic pathway of blood coagulation. This paper looks at the information concerning the molecular biology and pathology of the haemophilias which has recently been forthcoming. The genes for factor VIII and factor IX have both been successfully cloned within the past five years, with that of factor VIII, achieved in 1984, being a particular tour de force. It encompasses 0.1 per cent of the human X chromosome and is the largest gene yet characterised. Gene cloning is the starting point from which gene probes can be designed to elucidate the molecular pathology of the haemophilias. The implications of these discoveries for the practice of clinical medicine are reviewed, with special emphasis on prenatal diagnosis and carrier detection by means of restriction fragment length polymorphisms, and replacement therapy with recombinant factor VIII.

(PDF 0-2 workdays service)

Order PDF Full Text

Close
Close

Click here to order any other PDF Full Text


Accession: 006719983

PDF Full Text: Submit


Submit PDF Full Text

No spam - Every submission is manually reviewed

Due to poor quality, we do not accept files from Researchgate

Submitted PDF Full Texts will always be free for everyone
(We only charge for PDFs that we need to acquire)

Select a PDF file:
Close
Close

Other references

Shima, Keisetsu; Tanji, Jun, 1998: Involvement of NMDA and non-NMDA receptors in the neuronal responses of the primary motor cortex to input from the supplementary motor area and somatosensory cortex: Studies of task-performing monkeys. The involvement of N-methyl-D-aspartate (NMDA) and non-NMDA glutamate receptors in mediating the excitatory responses of neurons in the primary motor cortex (MI) to electrical stimulation of the supplementary motor area (SMA) and the somatosensory...

Wilbert Lampen, Ute; Seliger, Christian; Zilker, Thomas; Wildhirt, Stephen; Arendt, Rainer M., 1996: Cocaine increases the concentration of endothelin-1 in endothelial cell culture, human plasma and urine. Circulation 94(8 SUPPL ): I105

Hoff, GL.; Hanson, RP., 1973: Selected physiological parameters of free-ranging snowshoe hares. Journal of Mammalogy, 544: 1007-1008

Haghighi, A. B.; Bagheri, M., 2007: Pomegranate juice may be a potential addition to anti-Behcet armamentarium: a hypothesis. Clinical Rheumatology 26(10): 1709-1710

Soko?owska-Rutkowska, I., 1936: Ein Beitrag zur Kenntnis der polnis-chen Zoocecidien.. Kosmos Lwow, 61: 335-353

Anonymous, 2013: The management of blunt splenic injury with active bleeding A review. Blunt splenic injuries are a common management problem facing general surgeons. It has been suggested that management of blunt splenic injuries should take into account the presence of active bleeding and the Organ Injury Scale (OIS grade); where...

Protopopova, E. V.; Konovalova, S. N.; Loktev, V. B., 1997: Identification of the cell surface receptor for tick-borne encephalitis virus by antiidiotypic antibodies. Cell surface receptors for tick-borne encephalitis (TBE) virus are proposed to be identified by affinity chromatography with polyclonal antiidiotypic antibodies (AlA) as antireceptor antibodies. A single affinity chromatography procedure permitted...

Tudor, Robert C.; Blair, Edwin, 1971: Gnathostoma spinigerum an unusual cause of ocular nematodiasis in the western hemisphere. American Journal of Ophthalmology 72(1): 185-190

De, S., 1985: The undulatory movements of fishes. Science and Culture 51(10): 344-346

Goto, Yasuaki; Niidome, Tetsuhiro; Hongo, Haruyuki; Akaike, Akinori; Kihara, Takeshi; Sugimoto, Hachiro, 2008: Impaired muscarinic regulation of excitatory synaptic transmission in the APPswe/PS1dE9 mouse model of Alzheimers disease. Cholinergic hypothesis and amyloid cascade hypothesis are mainly proposed for Alzheimer's disease; however, the relationship between these hypotheses is poorly understood. To address the question of whether amyloid beta-peptide pathology aff...