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Restriction fragment length polymorphism analysis of the C1‐inhibitor gene in hereditary C1‐inhibitor deficiency
Author(s) -
McPhaden A. R.,
Birnie G. D.,
Whaley K.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03006.x
Subject(s) - exon , restriction fragment length polymorphism , genetics , biology , allele , restriction enzyme , microbiology and biotechnology , gene , mutation , genotype
Four out of 12 kindreds with Type I hereditary angio‐oedema (HAE) were shown to have unique disease‐related restriction fragment length polymorphism (RFLPs) in one allele of the C1‐inhibitor gene. These RFLPs were used to localise the gene mutations responsible for them in each family. The four mutations affected exon 4, exon 6, exon 7 and exon 8, respectively. Mutations in exon 6 and exon 8 have not been described previously in Type I HAE. The other two mutations which comprised an exon 4 deletion and an exon 7 deletion have already been documented by other investigators. In each family the mutation was seen to cosegregate with the disease. Detection of a disease‐related RFLP in 30% of the Type I HAE kindred tested is higher than other published studies, and reflects the larger number of restriction enzymes employed. These results suggest that Type I HAE is likely to be associated with a multiplicity of gene mutations as is seen in other genetic diseases. A new C1‐inhibitor gene‐related RFLP in the normal population was also characterised. This may be useful as an indirect marker of the mutant C1‐inhibitor allele in certain families with Type I HAE.