Type II Hereditary Angio-Oedema Associated with Two Mutations in One Allele of the C1-lnhibitor Gene around the Reactive-Site Coding Region
作者:
Z. Siddique,
A.R. McPhaden,
K. Whaley,
期刊:
Human Heredity
(Karger Available online 1992)
卷期:
Volume 42,
issue 5
页码: 298-301
ISSN:0001-5652
年代: 1992
DOI:10.1159/000154086
出版商: S. Karger AG
关键词: Hereditary angio-oedema;C1-inhibitor gene mutations
数据来源: Karger
摘要:
The polymerase chain reaction and nucleotide sequence analysis have been used to characterise two point mutations in the eighth exon of one allele of the C1-inhibitor gene in a kindred with type II hereditary angio-oedema (HAE). The mutations comprise a G to A substitution at C1-inhibitor gene nucleotide 16789 and an upstream C to T substitution at nucleotide position 16765. This represents the first report of these two mutations in the same C1-inhibitor allele in type II HAE. The molecular genetic pathogenesis of HAE is discussed in the light of these findings.
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