Quasipalindrome Instability in the C1 Inhibitor Gene • 20
نویسندگان
چکیده
منابع مشابه
C1 inhibitor gene sequence facilitates frameshift mutations.
Mutations disrupting the function or production of C1 inhibitor cause the disease hereditary angioneurotic edema. Patient mutations identified an imperfect inverted repeat sequence that was postulated to play a mechanistic role in the mutations. To test this hypothesis, the inverted repeat was cloned into the chloramphenicol acetyltransferase gene in pBR325 and its mutation rate was studied in ...
متن کاملPlasma levels of C1- inhibitor complexes and cleaved C1- inhibitor in patients with hereditary angioneurotic edema.
C1- inhibitor (C1(-)-Inh) catabolism in plasma of patients with hereditary angioneurotic edema (HANE) was assessed by measuring the complexes formed by C1(-)-Inh with its target proteases (C1-s, Factor XIIa, and kallikrein) and a modified (cleaved) inactive form of C1(-)-Inh (iC1(-)-Inh). This study was performed in plasma from 18 healthy subjects and 30 patients with HANE in remission: 20 with...
متن کاملExpression of platelet C1 inhibitor.
Human platelets contain a pool of C1 inhibitor (C1 INH) distinct from that in plasma. Twelve normal platelet samples washed by centrifugation had a mean platelet C1 INH antigen level of 19.3 +/- 2.8 ng (mean +/- SEM) per 10(8) platelets. These values contrast with the mean +/- SEM platelet C1 INH antigen level of 6.1 +/- 0.9 per 10(8) platelets from 12 C1 INH-deficient patients. The level of pl...
متن کاملBilateral C1-C2 claw for atlantoaxial instability.
OBJECTIVE Atlantoaxial stability can be achieved by laminar hook systems via posterior approach. This technique is much more safer than using screws. We presented our experience with the C1-C2 claw procedure. METHODS AND MATERIAL Seven patients with atlantoaxial instability were operated by using C1 and C2 hooks, rods and transverse connector at Neurosurgery Clinic of Istanbul University Cerr...
متن کاملRestriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema.
Hereditary angioneurotic edema (HANE) results from the deficiency of the inhibitor of the first component of human complement (C1-INH). It is inherited as an autosomal dominant trait. Heterogeneity of this defect has been shown at the protein and mRNA level. Southern blot analysis of genomic DNA was performed after digestion with six different restriction endonucleases in 24 families affected w...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1998
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199804001-00041