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Haplotype analysis in gelsoiin‐related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan
Author(s) -
Paunio Tiina,
Sunada Yoshihide,
Kiuru Sari,
Makishita Hideo,
Ikeda ShuIchi,
Weissenbach Jean,
Palo Jorma,
Peltonen Leena
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380060112
Subject(s) - gelsolin , haplotype , biology , genetics , amyloidosis , mutation , microbiology and biotechnology , gene , actin , pathology , genotype , medicine
Familial amyloidosis, Finnish type (FAF) (gelsolin‐related amyloidosis) is an autosomal dominant form of systemic amyloidosis characterized by corneal lattice dystrophy and peripheral polyneuropathy. The accumulating protein in FAF consists of fragments of gelsolin, an actin‐modulating protein. The gelsolin mutation G654A has been found in both Finnish and Japanese patients. To study the origin of the gelsolin mutation in these patients we performed haplotype analysis in 10 Finnish and 2 Japanese FAF families. Poymorphic DNA markers GSN, D9S103, AFMa061xd9, and AFMa139xb9 revealed a uniform disease haplotype in all the disease‐associated chromosomes of the Finnish FAF families, which was different from the one observed in the Japanese families. The present results and the previously detected gelsolin mutation G654T in Czech and Danish FAF patients suggest that nucle otide 654 may represent a mutation hot spot in the gelsolin gene. The DNA markers studied here will be useful in future genealogical analyses of FAF. © 1995 Wiley‐Liss, Inc.