Abstract:
BACKGROUND:Some of the genetic variants of hemoglobin (Hb) and their chemically modified species are known to affect the measurement of Hb A(1c). The purpose of this study was to characterize Hb species in the blood sample of a 74-year-old German male with an exceptionally low Hb A(1c) value. METHODS:Hemolysates from the propositus and a healthy individual were analyzed by electrophoresis, cation-exchange HPLC, boronate affinity chromatography, and electrospray ionization-mass spectrometry (ESMS). Genomic DNA was amplified by PCR, and the sequencing was performed on an ABI 310 sequencer. Functional properties of Hb were determined by oxygen equilibrium studies and CO recombination kinetics after flash photodissociation. Glycohemoglobin species were synthesized by incubating hemolysates with glucose. RESULTS:A novel, electrophoretically silent beta chain, beta5(A2)Pro-->Ala or Hb Görwihl, was detected by cation-exchange HPLC. It accounted for approximately 44% of the total Hb and had functional properties similar to those of normal Hb A and a mild degree of heat instability. During incubation with glucose, glycation of the beta chains (assessed by ESMS) in the hemolysate of a healthy volunteer was twice as fast as in hemolysate from the propositus. CONCLUSIONS:The substitution beta5(A2)Pro-->Ala seems to affect neither the functional properties nor the heterotropic interactions of Hb, but slows glycation of the N-terminal valine by an unknown mechanism.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Bissé E,Schauber C,Zorn N,Epting T,Eigel A,Van Dorsselaer A,Wieland H,Kister J,Kiger Ldoi
10.1373/49.1.137subject
Has Abstractpub_date
2003-01-01 00:00:00pages
137-43issue
1eissn
0009-9147issn
1530-8561journal_volume
49pub_type
杂志文章abstract:BACKGROUND:Mutations in the retina-specific ABC transporter (ABCA4) gene have been associated with several forms of macular degenerations. Because the high complexity of the molecular genotype makes scanning of the ABCA4 gene cumbersome, we describe here the first use of denaturing HPLC (DHPLC) to screen for ABCA4 muta...
journal_title:Clinical chemistry
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doi:10.1373/clinchem.2004.033241
更新日期:2004-08-01 00:00:00
abstract::In this rapid, cost-effective, enzyme-linked immunosorbent assay for 17 alpha-hydroxyprogesterone (17-OHP) eluted from dried blood spotted on filter paper, second antibody is coated onto the microwell plate and horseradish peroxidase (EC 1.11.1.7) is the label enzyme. Antiserum to 17-OHP was prepared by using 4-(2-car...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
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abstract::By using bivariate probability estimation for the diagnosis of acute myocardial infarction (AMI) we show how to overcome the difficulties encountered for patients whose clinical presentation is atypical and those encountered when multiple isoenzyme determinations are treated by univariate methods. We use the values fo...
journal_title:Clinical chemistry
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doi:
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更新日期:2011-11-01 00:00:00
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journal_title:Clinical chemistry
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doi:
更新日期:1979-06-01 00:00:00
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journal_title:Clinical chemistry
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doi:
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journal_title:Clinical chemistry
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doi:
更新日期:1986-08-01 00:00:00
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journal_title:Clinical chemistry
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doi:
更新日期:1979-08-01 00:00:00
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journal_title:Clinical chemistry
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
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abstract::To see if saliva is a valid substitute for plasma in assay of progesterone even when concentrations of hormone and binding proteins are fluctuating, we determined the concentrations of total and free progesterone in plasma and salivary progesterone in specimens from 36 women volunteers during the course of pregnancy a...
journal_title:Clinical chemistry
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doi:
更新日期:1989-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2004-10-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
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更新日期:2017-03-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-03-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1982-05-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2009.125856
更新日期:2010-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 临床试验,杂志文章
doi:
更新日期:1999-06-01 00:00:00
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更新日期:2007-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1978-01-01 00:00:00
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更新日期:2004-08-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1982-06-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-02-01 00:00:00
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更新日期:2008-09-01 00:00:00
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更新日期:2019-06-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
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journal_title:Clinical chemistry
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doi:
更新日期:1977-06-01 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2002-09-01 00:00:00