Mspl polymorphism at the human Complement component C6 gene (C6)
نویسندگان
چکیده
منابع مشابه
Complement component C6 deficiency and susceptibility to Neisseria meningitidis infections.
May 2004, Vol. 94, No. 5 SAMJ Meningococcal disease remains one of the most serious bacterial infections in both Western and developing countries. Despite recent advances in treatment the mortality rate remains at about 12%. There is a group of South Africans who are particularly vulnerable to this disease. They are individuals with genetically determined deficiencies of individual terminal com...
متن کاملA Blood Coagulation Abnormality in Rabbits Deficient in the Sixth Component of Complement (c6) and Its Correction by Purified C6
Evidence for the involvement of the sixth component of complement (C6) in normal blood coagulation is provided by the description of a coagulation abnormality in rabbits with a genetic C6 deficiency and by its correction with highly purified preparations of C6. Whole blood clotting time in glass or plastic was prolonged and prothrombin consumption was decreased in blood from the deficient anima...
متن کاملEcoRI polymorphism in the human third complement component (C3) gene.
Source/Description A cDNA fragment, pC3.11 (1) was used as probe. Polymorphisms: EcoRI cleavage of genomic DNA reveals a 2 allele polymorphism with band sizes of 5.2 and 5.6 kb. Invariant bands of 11.5, 11.0, 9.0 and 3 0 kb were also present. Frequency: Estimated from 35 unrelated Caucasians. Allele Frequency Dl 5.2 0.67 D2 5.6 0.33 Chromosomal Localisation: The human C3 gene had been assigned ...
متن کاملArthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6).
We report here the case of a woman with joint pains found to have antinuclear antibodies and undetectable serum haemolytic complement. Investigation of her and her family members showed an inherited deficiency of C6.
متن کاملComplement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa.
BACKGROUND Invasive meningococcal disease (MD), caused by Neisseria meningitidis infection, is endemic in South Africa, with a seasonal peak in winter and spring. There were 2 432 laboratory-confirmed cases between 2006 and 2010. Human deficiency of the fifth complement component (C5D) or complete absence of the sixth component (C6Q0) leads to increased risk of MD, which is often recurrent. All...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1991
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/19.1.194