Document Detail


Identical structural changes in inherited albumin variants from different populations.
MedLine Citation:
PMID:  2911589     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alloalbuminemia is rare and has a cumulative frequency of only approximately 1 in 3,000 in Europeans and Japanese. The worldwide ethnic and geographic distribution of certain albumin genetic variants appears to be nonrandom. Moreover, we have found that structurally identical variants may occur at different frequencies in ethnically distinct populations, presumably owing to independent mutations. In this study, albumin B and two types of proalbumins, which as a group are the most common European albumin variants, have also been found in Asians. We have identified the amino acid substitution characteristic of albumin B (glutamic acid----lysine at position 570) in alloalbumins from six unrelated individuals of five different European descents and also in two Japanese and one Cambodian. The two types of proalbumins most common in Europe (Lille type, arginine----histidine at position -2; Christchurch type, arginine----glutamic acid at position -1) also occur in Japan. These results provide evidence for independent mutations at single sites in the albumin genome. The clustering of these and of several other amino acid exchanges in certain regions of the albumin molecule suggests two possibilities: that certain sites are hypermutable or that mutants involving certain sites are more subject to selection than mutants involving others.
Authors:
K Arai; N Ishioka; K Huss; J Madison; F W Putnam
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  86     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  1989 Jan 
Date Detail:
Created Date:  1989-02-21     Completed Date:  1989-02-21     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  434-8     Citation Subset:  IM    
Affiliation:
Department of Biology, Indiana University, Bloomington 47405.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Cambodia
Chromatography, High Pressure Liquid
Electrophoresis
Europe
Genetic Markers
Genetic Variation*
Humans
Japan
Molecular Sequence Data
Multigene Family
Mutation
Peptide Mapping
Prealbumin / analysis*,  genetics
Serum Albumin / analysis*,  genetics
Grant Support
ID/Acronym/Agency:
DK19221/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Prealbumin; 0/Serum Albumin
Comments/Corrections

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