Characterisation of Nucleotide Sequence Variants and Disease-Specific Mutations Involving the 3’ End of the C1-Inhibitor Gene in Hereditary Angio-Oedema
作者:
Z. Siddique,
A.R. McPhaden,
K. Whaley,
期刊:
Human Heredity
(Karger Available online 1995)
卷期:
Volume 45,
issue 2
页码: 98-102
ISSN:0001-5652
年代: 1995
DOI:10.1159/000154267
出版商: S. Karger AG
关键词: Hereditary angio-oedema;C1-inhibitor gene sequence variants, mutations
数据来源: Karger
摘要:
The sixth, seventh and eighth exons of both alleles of the C1-inhibitor gene were nucleotide sequenced in 52 individuals from 20 kindred with type I hereditary angio-oedema (HAE), 5 kindred with type II HAE and 10 control kindred. Four previously unreported nucleotide which had no disease specificity were identified in addition to a sequencing error in the eighth exon. In addition, a T → C mutation at position 8770 (resulting in a Phe → Leu substitution at position 291) was identified on the abnormal allele of the affected members of a family with type I HAE due to an exon 6 donor splice site mutation. The significance of this mutation is not known. Disease-specific mutations were identified in 100% of type II HAE kindred and in 20% of type I HAE kindred. The relevance of these findings to the evolving understanding of the molecular genetics of HAE is discus
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