Literature DB >> 9268673

New diallelic markers in the HLA region of chromosome 6.

E Beutler1, C West.   

Abstract

Diallelic polymorphisms have been identified in the HLA-H gene and the ZNF192 gene located about 2 megabases centromeric to HLA-H. The three polymorphic sites in HLA-H together with the two hemochromatosis mutations in this gene give rise to 8 different haplotypes. The three polymorphic sites in ZNF192 give rise to 4 different haplotypes. The haplotypes in HLA-H are in complete linkage disequilibrium with the two common mutations in that gene, 845A (C282Y) and 187G (H63D). The 845A mutation is in weak linkage disequilibrium with the ZNF192 polymorphisms and the 187G mutation appears to be in equilibrium with this polymorphism. The 187G mutation therefore appears to be the older of the two HLA-H mutations.

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Year:  1997        PMID: 9268673     DOI: 10.1006/bcmd.1997.0139

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN: 1079-9796            Impact factor:   3.039


  6 in total

1.  Sequence variation and haplotype structure at the human HFE locus.

Authors:  Christopher Toomajian; Martin Kreitman
Journal:  Genetics       Date:  2002-08       Impact factor: 4.562

2.  Intragenic haplotype analysis of common HFE mutations in the Portuguese population.

Authors:  Sandra Toste; Luís Relvas; Catarina Pinto; Celeste Bento; Augusto Abade; M Letícia Ribeiro; Licínio Manco
Journal:  J Genet       Date:  2015-06       Impact factor: 1.166

3.  H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.

Authors:  Barjinderjit Kaur Dhillon; Swami Prakash; G R Chandak; Y K Chawla; Reena Das
Journal:  J Genet       Date:  2012-08       Impact factor: 1.166

4.  Multicentric origin of hemochromatosis gene (HFE) mutations.

Authors:  J Rochette; J J Pointon; C A Fisher; G Perera; M Arambepola; D S Arichchi; S De Silva; J L Vandwalle; J P Monti; J M Old; A T Merryweather-Clarke; D J Weatherall; K J Robson
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

5.  Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Authors:  Monique G Zaahl; Alison T Merryweather-Clarke; Maritha J Kotze; Schalk van der Merwe; Louise Warnich; Kathryn J H Robson
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

6.  Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

Authors:  S V Mikhailova; V N Babenko; D E Ivanoshchuk; M A Gubina; V N Maksimov; I G Solovjova; M I Voevoda
Journal:  BMC Genet       Date:  2016-06-17       Impact factor: 2.797

  6 in total

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