Abstract:
:alpha 1-Antitrypsin (A1AT) deficiency is a relatively common autosomal recessive disease, resulting most often from a single base pair (1 bp) substitution called the Z mutation. Previous genetic tests for carriers and affected patients have relied on quantitative binding of radioactive probes to an amplified gene product, because the mutation does not occur within a restriction enzyme site. Using polymerase chain reaction (PCR)-mediated site-directed mutagenesis, one can introduce a base substitution near the mutation site, such that an inexpensive restriction enzyme (Taq I) can be used to differentiate normal subjects, carriers, and affected patients. We have applied this method to the detection of the Z mutation and the S mutation, which in heterozygotes with a Z allele may lead to the development of symptoms similar to those in ZZ homozygous subjects.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Tazelaar JP,Friedman KJ,Kline RS,Guthrie ML,Farber RAsubject
Has Abstractpub_date
1992-08-01 00:00:00pages
1486-8issue
8 Pt 1eissn
0009-9147issn
1530-8561journal_volume
38pub_type
杂志文章abstract::We measured the rate of elimination of phenylalanine by constant intravenous infusion of L-phenylalanine in 14 parents of children with phenylketonuria and in 21 subjects with a negative family history for this disease. When reciprocals of the observed elimination rates were plotted against the reciprocals of the incr...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1976-10-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2018.292086
更新日期:2018-11-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1997-02-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1983-11-01 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
pub_type: 杂志文章
doi:
更新日期:1978-04-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1989-06-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-09-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1992-03-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1985-12-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1996-03-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2009.140707
更新日期:2010-04-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2004.040311
更新日期:2005-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:2012-07-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
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pub_type: 杂志文章
doi:
更新日期:1984-05-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-06-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2003.026849
更新日期:2004-03-01 00:00:00
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更新日期:2007-04-01 00:00:00
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更新日期:2016-05-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-06-01 00:00:00
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更新日期:2000-05-01 00:00:00