C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.
The polymerase chain reaction and nucleotide sequence analysis have been used to characterise a three nucleotide insertion in the eighth exon of one allele of the C1-inhibitor gene between nucleotides 16749 and 16750 in a kindred with type II hereditary angio-oedema (HAE). The effect of the resulting C1-inhibitor amino acid sequence alteration is discussed. This represents the first report of a nucleotide insertion in the C1-inhibitor gene causing type II HAE.
University Department of Pathology, Western Infirmary, Glasgow.
Z
Z
Siddique
A R
AR
McPhaden
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K
Whaley
D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009841:Oligonucleotides; D016133:Polymerase Chain Reaction; D014364:Tryptophan / Q000235:genetics; D014633:Valine / Q000235:genetics
D003174:Complement C1 Inactivator Proteins; D004251:DNA Transposable Elements; D009841:Oligonucleotides; D014364:Tryptophan; D014633:Valine; D005998:Glycine