Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene

Journal Article · Mon Jan 01 00:00:00 EST 1990 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.87.1.265· OSTI ID:6810622

Levy, N J; Ramesh, N; Daviss, III, A E ^[1]; Cicardi, M ^[2]; Harrison, R A ^[3]

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1. Children's Hospital, Boston, MA (USA)
2. Cattedra di Clinica Medica Universita de Milano, Milan (Italy)
3. Medical Research Council Centre, Cambridge (England)

Identical single-base changes in the C1 inhibitor gene that may result in dysfunctional inhibitor proteins are described in two different families with type II hereditary angioneurotic edema. Initially, a restriction fragment length polymorphism was defined that resulted from loss of a Pst I site within exon VIII, which encodes the region containing the reactive center. Exon VIII from the normal and abnormal allelles was amplified by the polymerase chain reaction. Amplified DNA product was cloned into plasmid pUC18; clones representing normal and mutant allelles were distinguished by the presence and absence, respectively of the Pst I restriction site. DNA sequence analysis revealed a G {yields} A mutation in the codon for alanine-436, which would result in replacement with a threonine residue. This position is nine amino acid residues amino-terminal to the reactive-center arginylthreonine peptide bond. In contrast, previously defined mutations in type II hereditary angioneurotic edema result in replacement of the reactive-center arginine.

• OSTI ID: 6810622
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 87:1; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
ENZYME INHIBITORS
GENE MUTATIONS
HEREDITARY DISEASES
ETIOLOGY
ALANINES
AMINO ACID SEQUENCE
ARGININE
DNA BASE TRANSITIONS
DNA SEQUENCING
EDEMA
GENE AMPLIFICATION
PATIENTS
PHOSPHORUS 32
RFLPS
AMINO ACIDS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CARBOXYLIC ACIDS
DAYS LIVING RADIOISOTOPES
DISEASES
ISOTOPES
LIGHT NUCLEI
MOLECULAR STRUCTURE
MUTATIONS
NUCLEI
ODD-ODD NUCLEI
ORGANIC ACIDS
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PHOSPHORUS ISOTOPES
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
SYMPTOMS
550201* - Biochemistry- Tracer Techniques