The frequency of the haemochromatosis‐associated genotype D6S265‐1:D6S105‐8 in blood donors

Worwood, Mark; Dorak, M. Tevfik; Nicklin, Stuart A.; Stone, Caroline; Pointon, Jennifer J.; Darke, C.

doi:10.1046/j.1365-2141.1996.d01-1732.x

Cited by 9 publications

(9 citation statements)

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“…Allele D6S265-1 is present only on chromosomes carrying HLA-A3. 29,31 The ancestral haplotype was not reported in a well chosen normal control population in Italy, 29 indicating that it is strictly associated with the hemochromatosis gene.…”

Section: Methodsmentioning

confidence: 99%

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

et al. 1998

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Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A role for genetic hemochromatosis in the development of iron overload in sporadic PCT has been hypothesized in the past. The aim of this work was to investigate whether mutations of HFE, which is a candidate gene for hemochromatosis, play the role of genetic susceptibility factors for PCT in Italian patients, who have a high prevalence of acquired triggering factors, such as hepatitis C virus (HCV) chronic infection and alcohol. We determined HFE genotypes of 68 male patients with PCT. Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. A second mutation of HFE, His63Asp, however, had a significantly increased frequency as it was present in half of the patients. Surprisingly, the presence of the His63Asp mutation was not related to the iron status of patients, suggesting that a subtle abnormality of iron metabolism induced by this mutation could escape detection by the standard parameters of iron status. In PCT patients with liver disease, the presence of the mutation could contribute to the inactivation of URO-D, either directly or through a synergistic action with other factors that cause liver damage. (HEPATOLOGY 1998;27;181-184.)

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Section: Methodsmentioning

confidence: 99%

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

et al. 1998

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“…A study of 7,820 blood donors calcuis associated with an ''ancestral'' haplotype defined by micro-lated that, in Britain, approximately 50% of chromosomes satellite markers within and telomeric to the HLA class I with this haplotype also carry the HFE gene. 18 However, in region on chromosome 6.…”

Section: -3 Hepaticmentioning

confidence: 99%

“…[10][11][12][13] There was no systematic association between of our 41 patients (10%) were homozygous for this haplotype HLA-A3 and either sporadic (42 patients) or familial PCT (Table 2) compared with 0.22% of a control group consisting (27 patients) in France, 13 although in Brittany HLA-A3 is in of 7820 blood donors from South Wales. 18 Eleven other pa-strong linkage disequilibrium with GH. 24 The reason for tients also carried all three of these alleles.…”

Section: The Frequency Of the Ancestral Hemochromatosis Haplotypementioning

confidence: 99%

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The Frequency of Hemochromatosis–Associated Alleles Is Increased in British Patients With Sporadic Porphyria Cutanea Tarda

et al. 1997

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of the hemochromatosis-linked HLA allele, HLA-A3, and The cause of the hepatic siderosis and iron overload PCT 7-9 but not by others. [10][11][12][13] Recently it has been shown that that is common in porphyria cutanea tarda (PCT) is unthe hemochromatosis gene (HFE) is most likely located close certain. Heterozygosity for genetic hemochromatosis to the microsatellite DNA marker, D6S1260 (formerly CS5), has been supported by some studies of the association which is 700kb telomeric to the marker D6S105, which is between the HLA-A3 antigen and porphyria cutanea itself 2-3 cm telomeric to the HLA-A locus. The cause of the hepatic siderosis and mild iron overload a denaturing gel.14 For D6S1260 one primer was labelled with [g-that is common in PCT is uncertain. The hypothesis that it 32 P]adenosine triphosphate using T4 polynucleotide kinase; the polyis caused by heterozygosity for genetic hemochromatosis merase chain reaction products were denatured, fractionated by elec-(GH) 7 has been supported by some studies of the association trophoresis in polyacrylamide gels under denaturing conditions, and visualised by autoradiography.14 Statistical Analysis. Allele frequencies were determined by direct counting and individuals possessing a single allele were assumed to Abbreviations: PCT, porphyria cutanea tarda; GH, genetic hemochromatosis; HFE, hebe homozygous for that allele. The significance of differences between Other Methods. Transferrin saturation was calculated from the Received May 15, 1996; accepted August 29, 1996. concentrations of plasma iron, measured by atomic absorption spec-

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“…-Thornsen : Microsatellites in the HLA region: 1998 update c D6Sl05a8 Similarity in the prevalence of HC haplotype in normal population(46) and in HC population.Absence of an absolute specificity of HC haplotype for HC disease. Notion of a 'highfisk' haplotype, carrying a risk of 50% for the presence of the HC gene.…”

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Microsatellites in the HLA region: 1998 update

Foissac¹,

Cambon‐Thomsen²

1998

Tissue Antigens

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In order to update the review published in Tissue Antigens in 1997, we present here a new overview on microsatellites in the HLA region, including additional information, with focus on the following points: * Description of 103 microsatellite characteristics in the HLA region, 50 markers having been newly described since 1996. * An integrated map of the HLA region, including microsatellites and some HLA genes, revealing an important microsatellite density in the MHC (Class I, Class II and Class III regions). * A synthesis of microsatellite analysis in disease studies, summarizing results of microsatellite approaches in 24 pathologies, including autoimmune diseases, HLA-associated or HLA-linked diseases and cancers. * Other applications of HLA region microsatellites in population or transplantation studies.

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The frequency of the haemochromatosis‐associated genotype D6S265‐1:D6S105‐8 in blood donors

Cited by 9 publications

References 8 publications

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

The Frequency of Hemochromatosis–Associated Alleles Is Increased in British Patients With Sporadic Porphyria Cutanea Tarda

Microsatellites in the HLA region: 1998 update

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