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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1994-3-30
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pubmed:abstractText |
Two families with hereditary renal amyloidosis were found to have a novel mutation in the fibrinogen A alpha chain gene. This form of amyloidosis is an autosomal dominant condition characterized by proteinuria, hypertension, and subsequent azotemia. DNAs of patients with amyloidosis were screened for a polymorphism in fibrinogen A alpha chain gene by single-strand conformation polymorphism analysis, and affected individuals from two kindreds were found to have a mutation. Both of these kindreds are American of Irish descent presenting with non-neuropathic, nephropathic amyloidosis in the fifth to the seventh decade of life. DNA sequencing showed a point mutation in the fibrinogen A alpha chain gene that is responsible for substitution of valine for glutamic acid at position 526. By restriction fragment length polymorphism analysis, 7 affected individuals and 14 asymptomatic individuals in these two kindreds were positive for the fibrinogen A alpha chain Val 526 gene. Fibrinogen was isolated from plasma of a heterozygous gene carrier and shown to contain approximately 50% variant fibrinogen. Discovery of this new mutation confirms the association between fibrinogen A alpha chain variant and hereditary renal amyloidosis and establishes a new biochemical subtype of amyloidosis.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8113408-1138543,
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0021-9738
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
731-6
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:8113408-Aged,
pubmed-meshheading:8113408-Amyloid,
pubmed-meshheading:8113408-Amyloidosis,
pubmed-meshheading:8113408-Base Sequence,
pubmed-meshheading:8113408-DNA Primers,
pubmed-meshheading:8113408-Female,
pubmed-meshheading:8113408-Fibrinogen,
pubmed-meshheading:8113408-Genetic Variation,
pubmed-meshheading:8113408-Humans,
pubmed-meshheading:8113408-Kidney Diseases,
pubmed-meshheading:8113408-Male,
pubmed-meshheading:8113408-Middle Aged,
pubmed-meshheading:8113408-Molecular Sequence Data,
pubmed-meshheading:8113408-Pedigree,
pubmed-meshheading:8113408-Point Mutation,
pubmed-meshheading:8113408-Polymorphism, Genetic
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pubmed:year |
1994
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pubmed:articleTitle |
Hereditary renal amyloidosis with a novel variant fibrinogen.
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pubmed:affiliation |
Department of Medicine, Indiana University, Indianapolis.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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