Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences
作者： Gōsta Holmgren , Sven Bergström , Ulf Drugge , Erik Lundgren , Carin Nording-Sikström
DOI: 10.1111/J.1399-0004.1992.TB03627.X
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摘要: Holmgren G, Bergstrom S, Drugge U, Lundgren E, Nording-Sikstrom C, Sandgren O, Steen L. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1992:41:39–41. Familial amyloidotic (FAP) a mutation position 30 transthyretin (TTR) (previously called prealbumin) is an autosoma! dominant inherited disorder characterized varying degrees peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. We have earlier diagnosed homozygosity TTR-Met30-gene using Southern four Swedish individuals. found it possible to detect Met-30 amplifying discrete regions TTR-gene polymerase chain reaction (PCR), amplification products restricted Nsil analysed gel electro-phoresis. Clinical data on homozygous individuals, including three new cases, are presented.
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