Abstract:
:HLA-A and -B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc less than 0.001); B7: 33.1% vs. 15.6% (Pc less than 0.001); B14: 6.9% vs. 3.0% (Pc greater than 0.05); B38: 5% vs. 0.9% (Pc greater than 0.05); B47: 4.0% vs. 0.4% (Pc greater than 0.05). Pedigree analyses disclosed 19 different haplotypes in IH subjects, compared to 286 haplotypes in controls. The following haplotypes occurred with higher frequency in IH compared to controls: A3,B5: 10.3% vs. 0.3% (Pc less than 0.001); A3,B7: 25.6% vs. 6.6% (Pc = 0.001); A3,B14: 3.4% vs. 0.6% (Pc greater than 0.05); A3,B47: 6.9% vs. 0.2% (Pc greater than 0.05). The major IH marker HLA-A3 was found in 56% of the haplotypes. The patterns of HLA-alleles associated with IH in Denmark show similarities to those in Central Europe, Australia, USA and Canada, being A3,B7 dominated and those in Central Sweden, England and Ireland, being A3,B14 dominated.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Milman N,Graudal N,Nielsen LS,Fenger Kdoi
10.1111/j.1399-0004.1992.tb03619.xsubject
Has Abstractpub_date
1992-01-01 00:00:00pages
6-11issue
1eissn
0009-9163issn
1399-0004journal_volume
41pub_type
杂志文章abstract::Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromo...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1993-07-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1990-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb00833.x
更新日期:1979-06-01 00:00:00
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journal_title:Clinical genetics
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pub_type: 杂志文章
doi:10.1034/j.1399-0004.1998.531530108.x
更新日期:1998-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2012.01907.x
更新日期:2013-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1987-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1992-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1985-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2000-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1980-12-01 00:00:00
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更新日期:2020-12-13 00:00:00
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