Abstract
Hereditary cystatin C amyloid angiopathy, HCCAA, is a fatal dominantly inherited disorder caused by a mutation in the cystatin C gene. The leu-gln mutation at position 68 in exon 2 in the cystatin C gene can be detected as an extra 630 bp Alu I fragment in patients due to a loss of an Alu I restriction site. This mutation has only been found in the 8 HCCAA families originating in the west of Iceland and recently in an additional HCCAA isolate in the south of Iceland. This test has now been carried out on 177 individuals, including a fetus by chorionic villus analysis. 23 patients and 10 asymptomatic at-risk relatives were found to have the mutation. 95 unrelated individuals, 11 spouses and 38 at-risk relatives had normal cystatin C genes. RFLP analysis of three polymorphic restriction sites shows that patients from all the HCCAA families, except one, share an RFLP haplotype which is the most common one in the normal Icelandic population.
Published Version
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