Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency.

doi:10.1111/j.1399-0004.1991.tb03006.x

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Article

Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency.

Clinical genetics - 1 Mar 1991

McPhaden A R, Birnie G D, Whaley K

Abstract excerpt

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 m...

Topics

Angioedema
Complement C1 Inactivator Proteins
DNA Mutational Analysis
DNA Probes
Exons
Genetic Diseases, Inborn
Genetic Markers
Humans
Mutation
Pedigree
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Restriction Mapping

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