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Genetic basis for familial amyloidotic polyneuropathy
Author(s) -
Shimada Kazunori,
Maeda Shuichiro,
Araki Shukuro
Publication year - 1986
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950040506
Subject(s) - transthyretin , polyneuropathy , gene , complementary dna , genetics , amyloidosis , mutation , mutant , restriction enzyme , biology , microbiology and biotechnology , medicine , pathology , endocrinology
Familial amyloidotic polyneuropathy (FAP) is an inherited systemic amyloidosis, characterized by the extracellular deposition of fibrillar amyloid protein, i.e. a variant type of prealbumin, and by prominent peripheral nerve involvement. We recently established the basis of FAP, using a cloned human prealbumin cDNA, restriction endonuclease(s) and Southern blot procedures. This approach clearly revealed a direct link between mutation in the prealbumin gene and FAP; individuals with FAP are heterozygous for the prealbumin gene, carrying one normal and one mutant gene. Molecular analysis of the prealbumin gene yielded pertinent data on the genetic basis for FAP.