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rdf:type |
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lifeskim:mentions |
umls-concept:C0015127,
umls-concept:C0024337,
umls-concept:C0026882,
umls-concept:C0032923,
umls-concept:C0033684,
umls-concept:C0152025,
umls-concept:C0162326,
umls-concept:C0178499,
umls-concept:C0205419,
umls-concept:C0241888,
umls-concept:C0443288,
umls-concept:C0917792,
umls-concept:C0936012,
umls-concept:C1314792,
umls-concept:C1527178
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pubmed:issue |
3
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pubmed:dateCreated |
1993-9-15
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pubmed:abstractText |
A new mutation of transthyretin (TTR) has been identified in a patient with late-onset familial amyloidotic polyneuropathy (FAP) of Japanese origin. Peptide mapping by reverse-phase high performance liquid chromatography to compare the patient's TTR with normal TTR showed the presence of an abnormal peptide. Amino acid sequence analysis of the peptide (residues 49-61) showed a lysine-for-glutamic acid substitution at position 61. This substitution, verified by direct DNA sequencing, was the result of a guanine to adenine change on exon 3 of the TTR gene. A polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA) system was established to rapidly detect the missense mutation. TTR-Lys61 is the first variant TTR with a replacement of the acidic with basic amino acid to be found in the amyloid precursor proteins of FAP.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0006-291X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
16
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pubmed:volume |
194
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1090-6
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:8352764-Aged,
pubmed-meshheading:8352764-Aged, 80 and over,
pubmed-meshheading:8352764-Amino Acid Sequence,
pubmed-meshheading:8352764-Asian Continental Ancestry Group,
pubmed-meshheading:8352764-Base Sequence,
pubmed-meshheading:8352764-Exons,
pubmed-meshheading:8352764-Female,
pubmed-meshheading:8352764-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:8352764-Humans,
pubmed-meshheading:8352764-Japan,
pubmed-meshheading:8352764-Male,
pubmed-meshheading:8352764-Middle Aged,
pubmed-meshheading:8352764-Molecular Sequence Data,
pubmed-meshheading:8352764-Mutation,
pubmed-meshheading:8352764-Pedigree,
pubmed-meshheading:8352764-Peptide Mapping,
pubmed-meshheading:8352764-Polymerase Chain Reaction,
pubmed-meshheading:8352764-Prealbumin,
pubmed-meshheading:8352764-Protein Precursors,
pubmed-meshheading:8352764-Sequence Analysis,
pubmed-meshheading:8352764-Sequence Homology, Amino Acid,
pubmed-meshheading:8352764-Sequence Homology, Nucleic Acid
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pubmed:year |
1993
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pubmed:articleTitle |
A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.
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pubmed:affiliation |
Third Department of Medicine, Miyazaki Medical College, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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