Abstract:
:In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, western blotting of fibroblast extracts showed that the pseudodeficiency allele gave very little immunoreactive FAH protein, whereas northern analysis revealed a normal amount of FAH mRNA. Sequencing revealed an identical mutation, C1021-->T (Arg341Trp), in all the pseudodeficiency alleles. Site-directed mutagenesis and expression in a rabbit reticulocyte lysate system demonstrated that the C1021-->T mutation gave reduced FAH activity and reduced amounts of the full-length protein. Bs1EI restriction digestion of PCR products distinguished between the normal and the mutated sequences. Among 516 healthy volunteers of Norwegian origin, the C1021-->T mutation was found in 2.2% of the alleles. Testing for the C1021-->T mutation may solve the problem of prenatal diagnosis and carrier detection in families with compound heterozygote genotypes for HT1 and pseudodeficiency.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Rootwelt H,Brodtkorb E,Kvittingen EAsubject
Has Abstractpub_date
1994-12-01 00:00:00pages
1122-7issue
6eissn
0002-9297issn
1537-6605journal_volume
55pub_type
杂志文章abstract::Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locu...
journal_title:American journal of human genetics
pub_type: 杂志文章,评审
doi:
更新日期:1994-07-01 00:00:00
abstract::Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identified, and mutations in...
journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/319509
更新日期:2001-04-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:2000-05-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章,评审
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更新日期:2004-11-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302826
更新日期:2000-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1994-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2014.07.003
更新日期:2014-08-07 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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doi:
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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