Abstract：
:More than 40 null mutations in the filaggrin (FLG) gene are described. It is therefore possible to find two different null mutations in one individual (compound heterozygosity). It has been generally perceived that homozygous and compound heterozygous individuals were genotypically comparable; however, this has not been scientifically investigated. Two different FLG null mutations in the same individual may be in trans position, meaning that each mutation locates to a different allele functionally equivalent to homozygosity, or may be in cis position, meaning that both mutations locate to the same allele functionally equivalent to heterozygosity. To experimentally investigate allelic in cis versus in trans configuration of the two most common filaggrin (FLG) mutations (R501X and 2282del4) in compound heterozygous individuals. Testing for in cis or in trans allele configuration was performed by means of allele-specific PCR amplification and analysis of PCR products by agarose gel electrophoresis. All R501X/2282del4 compound heterozygous samples collected over a 4-year period of routine FLG mutation testing were investigated. In total, 37 samples were tested. All thirty-seven R501X/2282del4 compound heterozygous individuals were found to carry the two mutations in trans position. FLG null mutation compound heterozygous individuals can be considered functionally equivalent to FLG null mutation homozygosity for any of the two mutations.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Carlsen BC,Meldgaard M,Johansen JD,Thyssen JP,Menné T,Szecsi PB,Stender Sdoi
10.1111/exd.12199subject
Has Abstractpub_date
2013-09-01 00:00:00pages
572-5issue
9eissn
0906-6705issn
1600-0625journal_volume
22pub_type
杂志文章abstract：:SHARPIN is an important component of the linear ubiquitin chain assembly complex (LUBAC). Loss of function of SHARPIN results in eosinophilic inflammation in multiple organs including skin with Th2 -dominant cytokines and dysregulated development of lymphoid tissues in mice. The clinicopathological features are simila...
journal_title：Experimental dermatology
pub_type： 杂志文章
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
pub_type： 杂志文章,评审
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
pub_type： 评论,杂志文章
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1600-0625.2006.00452.x
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journal_title：Experimental dermatology
pub_type： 杂志文章
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journal_title：Experimental dermatology
pub_type： 信件
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更新日期：2010-06-01 00:00:00
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1111/exd.13095
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1600-0625.2007.00552.x
更新日期：2007-06-01 00:00:00
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1600-0625.2007.00571.x
更新日期：2007-07-01 00:00:00
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1034/j.1600-0625.2001.010002118.x
更新日期：2001-04-01 00:00:00
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
pub_type： 杂志文章
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journal_title：Experimental dermatology
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1600-0625.1995.tb00236.x
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journal_title：Experimental dermatology
pub_type： 杂志文章
doi：10.1111/exd.13988
更新日期：2019-08-01 00:00:00
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pub_type： 信件
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journal_title：Experimental dermatology
pub_type： 信件
doi：10.1111/j.1600-0625.2012.01563.x
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journal_title：Experimental dermatology
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