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 mutations. METHODS:Temperature conditions were designed for all 50 exons based on effective separation of 83 samples carrying 86 sequence variations and 19 mutagenized controls. For validation, samples from 23 previously characterized Stargardt patients were subjected to DHPLC profiling. Subsequently, samples from a cohort of 30 patients affected by various forms of macular degeneration were subjected to DHPLC scanning under the same conditions. RESULTS:DHPLC profiling not only identified all 132 sequence alterations previously detected by double-gradient denaturing gradient gel electrophoresis but also identified 5 sequence alterations that this approach had missed. Moreover, DHPLC scanning of an additional panel of 30 previously untested patients led to the identification of 26 different mutations and 29 polymorphisms, accounting for 203 sequence variations on 29 of the 30 patients screened. In total, the DHPLC approach allowed us to identify 16 mutations that had never been reported before. CONCLUSIONS:These results provide strong support for the use of DHPLC for molecular characterization of the ABCA4 gene.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Stenirri S,Fermo I,Battistella S,Galbiati S,Soriani N,Paroni R,Manitto MP,Martina E,Brancato R,Allikmets R,Ferrari M,Cremonesi Ldoi
10.1373/clinchem.2004.033241subject
Has Abstractpub_date
2004-08-01 00:00:00pages
1336-43issue
8eissn
0009-9147issn
1530-8561pii
clinchem.2004.033241journal_volume
50pub_type
杂志文章abstract：:We have developed an interactive statistical quality-control system for the small- to medium-sized radioimmunoassay laboratory, which can be used in a programmable desk-top calculator instead of the medium- or large-scale computer systems usually required. The design of this quality-control system is modeled after the...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-07-01 00:00:00
abstract：:We review the following labels used as substitutes for radioisotopes in immunoassay systems: bacteriophages, chemiluminescence precursors, fluorochromes, fluorogens, fluorescence quenchers, enzymes, coenzymes, inhibitors, substrates, various particulates, metal atoms, and stable free radicals. New methods for performi...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：
更新日期：1981-07-01 00:00:00
abstract：BACKGROUND:There is extended urinary excretion of Δ(9)-tetrahydrocannabinol (THC), 11-hydroxy-THC (11-OH-THC), and 11-nor-9-carboxy-THC (THCCOOH) in abstinent frequent cannabis smokers. We characterized THC, 11-OH-THC, THCCOOH, cannabidiol, cannabinol, THC-glucuronide, and THCCOOH-glucuronide disposition in urine of fr...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：10.1373/clinchem.2013.214106
更新日期：2014-02-01 00:00:00
abstract：BACKGROUND:Formalin-fixed paraffin-embedded (FFPE) tumor material represents a valuable resource for the analysis of RNA-based biomarkers, both in research laboratories and in routine clinical testing. A robust and automated RNA-extraction method with a high sample throughput is required. METHODS:We evaluated extracti...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2008.122572
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abstract：:If there were enzymatically inactive B subunits in a solution containing lactate dehydrogenase (LD) B4 prepared from the hemolysates of heterozygous individuals with LD-B subunit deficiency, the inactive subunits would compete with normal subunits for antibodies to the B4 subunit. Using the activity of normal LD-B4 as...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1990-07-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1987-01-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-08-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
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journal_title：Clinical chemistry
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doi：10.1373/clinchem.2006.071589
更新日期：2006-09-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-07-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-07-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-05-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
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journal_title：Clinical chemistry
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doi：10.1373/clinchem.2013.213504
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journal_title：Clinical chemistry
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doi：10.1373/clinchem.2004.037606
更新日期：2005-02-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-04-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-06-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-07-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1982-04-01 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：1987-09-01 00:00:00
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doi：10.1373/clinchem.2011.169714
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doi：10.1373/clinchem.2008.103465
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-09-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1991-02-01 00:00:00
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journal_title：Clinical chemistry
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