Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F

Paolo Gasparini; Lorena Borgato; Alberto Piperno; Domenico Girelli; Oliviero Olivieri; Enrico Gottardi; Antonella Roetto; Irma Dianzani; Siliva Fargion; Giuseppe Schinaia; Maria D. Cappellini; Giorgio Gandini; Pierfranco Pignatti; Gemino Fiorelli; Giorgio De Sandre; Clara Camaschella

doi:10.1093/hmg/2.5.571

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F

Paolo Gasparini, Lorena Borgato, Alberto Piperno, Domenico Girelli, Oliviero Olivieri, Enrico Gottardi, Antonella Roetto, Irma Dianzani, Siliva Fargion, Giuseppe Schinaia, Maria D. Cappellini, Giorgio Gandini, Pierfranco Pignatti, Gemino Fiorelli, Giorgio De Sandre, Clara Camaschella

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

Hereditary Hemochromatosls (HFE) is one of the most common inherited disorders with an estimated frequency of homozygous patients of 0.002-0.0045. The disease is characterized by increased intestinal iron absorption and progressive iron overload. Affected subjects show clinical symptoms of parenchimal organ damage after the third-fourth decade of life and have a 200 fold increased risk of developing hepatocellular carcinoma. Early diagnosis and treatment prevent complications and may normalize life expectancy of patients. The biochemical and genetic defects leading to progressive iron accumulation are still unknown, but the HFE gene is tightly linked to HLA complex on the short arm of chromosome 6. Utilizing HLA serotypes and the study of several polymorphic markers of 6p21, a linkage analysis of the disease locus was performed in a series of Italian hemochromatosls families. The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci.

Lingua originale	Inglese
pagine (da-a)	571-576
Numero di pagine	6
Rivista	Human Molecular Genetics
Volume	2
Numero di pubblicazione	5
DOI	https://doi.org/10.1093/hmg/2.5.571
Stato di pubblicazione	Pubblicato - mag 1993
Pubblicato esternamente	Sì

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Gasparini, P., Borgato, L., Piperno, A., Girelli, D., Olivieri, O., Gottardi, E., Roetto, A., Dianzani, I., Fargion, S., Schinaia, G., Cappellini, M. D., Gandini, G., Pignatti, P., Fiorelli, G., De Sandre, G., & Camaschella, C. (1993). Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F. Human Molecular Genetics, 2(5), 571-576. https://doi.org/10.1093/hmg/2.5.571

@article{d208d543409843b7b6e2dc37695a3446,

title = "Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F",

abstract = "Hereditary Hemochromatosls (HFE) is one of the most common inherited disorders with an estimated frequency of homozygous patients of 0.002-0.0045. The disease is characterized by increased intestinal iron absorption and progressive iron overload. Affected subjects show clinical symptoms of parenchimal organ damage after the third-fourth decade of life and have a 200 fold increased risk of developing hepatocellular carcinoma. Early diagnosis and treatment prevent complications and may normalize life expectancy of patients. The biochemical and genetic defects leading to progressive iron accumulation are still unknown, but the HFE gene is tightly linked to HLA complex on the short arm of chromosome 6. Utilizing HLA serotypes and the study of several polymorphic markers of 6p21, a linkage analysis of the disease locus was performed in a series of Italian hemochromatosls families. The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci.",

author = "Paolo Gasparini and Lorena Borgato and Alberto Piperno and Domenico Girelli and Oliviero Olivieri and Enrico Gottardi and Antonella Roetto and Irma Dianzani and Siliva Fargion and Giuseppe Schinaia and Cappellini, {Maria D.} and Giorgio Gandini and Pierfranco Pignatti and Gemino Fiorelli and {De Sandre}, Giorgio and Clara Camaschella",

note = "Funding Information: We thank the HFE families for dieir cooperation. We are indebted to J.R.Gruen for information concerning HLA-F mkrosatellite and to V.David for die gift of die 1.82 probe. We wish to thank R.Accolla for providing die HLA-A specific probe, A.Turco for help in running die LINKAGE program. Technical assistance of M.Dognini, E.Trabetti, C.Iodice is gratefully acknowledged. This work was partially supported by die National Research Council (C.N.R.) Research Project 'Biotechnology and Bioinstrumentation' and 'Genetic Engineering', C.N.R.Grant no. 89.02537.04 and by die 'Fondazione per le Biotecnologie, Torino'. A.R. is a recipient of a fellowship of die 'Fondazione per le Biotecnologie' Torino, Italy.",

year = "1993",

month = may,

doi = "10.1093/hmg/2.5.571",

language = "English",

volume = "2",

pages = "571--576",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "5",

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Gasparini, P, Borgato, L, Piperno, A, Girelli, D, Olivieri, O, Gottardi, E, Roetto, A, Dianzani, I, Fargion, S, Schinaia, G, Cappellini, MD, Gandini, G, Pignatti, P, Fiorelli, G, De Sandre, G & Camaschella, C 1993, 'Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F', Human Molecular Genetics, vol. 2, n. 5, pagg. 571-576. https://doi.org/10.1093/hmg/2.5.571

TY - JOUR

T1 - Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis

T2 - Localization of the gene centromeric to HLA-F

AU - Gasparini, Paolo

AU - Borgato, Lorena

AU - Piperno, Alberto

AU - Girelli, Domenico

AU - Olivieri, Oliviero

AU - Gottardi, Enrico

AU - Roetto, Antonella

AU - Dianzani, Irma

AU - Fargion, Siliva

AU - Schinaia, Giuseppe

AU - Cappellini, Maria D.

AU - Gandini, Giorgio

AU - Pignatti, Pierfranco

AU - Fiorelli, Gemino

AU - De Sandre, Giorgio

AU - Camaschella, Clara

N1 - Funding Information: We thank the HFE families for dieir cooperation. We are indebted to J.R.Gruen for information concerning HLA-F mkrosatellite and to V.David for die gift of die 1.82 probe. We wish to thank R.Accolla for providing die HLA-A specific probe, A.Turco for help in running die LINKAGE program. Technical assistance of M.Dognini, E.Trabetti, C.Iodice is gratefully acknowledged. This work was partially supported by die National Research Council (C.N.R.) Research Project 'Biotechnology and Bioinstrumentation' and 'Genetic Engineering', C.N.R.Grant no. 89.02537.04 and by die 'Fondazione per le Biotecnologie, Torino'. A.R. is a recipient of a fellowship of die 'Fondazione per le Biotecnologie' Torino, Italy.

PY - 1993/5

Y1 - 1993/5

N2 - Hereditary Hemochromatosls (HFE) is one of the most common inherited disorders with an estimated frequency of homozygous patients of 0.002-0.0045. The disease is characterized by increased intestinal iron absorption and progressive iron overload. Affected subjects show clinical symptoms of parenchimal organ damage after the third-fourth decade of life and have a 200 fold increased risk of developing hepatocellular carcinoma. Early diagnosis and treatment prevent complications and may normalize life expectancy of patients. The biochemical and genetic defects leading to progressive iron accumulation are still unknown, but the HFE gene is tightly linked to HLA complex on the short arm of chromosome 6. Utilizing HLA serotypes and the study of several polymorphic markers of 6p21, a linkage analysis of the disease locus was performed in a series of Italian hemochromatosls families. The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci.

AB - Hereditary Hemochromatosls (HFE) is one of the most common inherited disorders with an estimated frequency of homozygous patients of 0.002-0.0045. The disease is characterized by increased intestinal iron absorption and progressive iron overload. Affected subjects show clinical symptoms of parenchimal organ damage after the third-fourth decade of life and have a 200 fold increased risk of developing hepatocellular carcinoma. Early diagnosis and treatment prevent complications and may normalize life expectancy of patients. The biochemical and genetic defects leading to progressive iron accumulation are still unknown, but the HFE gene is tightly linked to HLA complex on the short arm of chromosome 6. Utilizing HLA serotypes and the study of several polymorphic markers of 6p21, a linkage analysis of the disease locus was performed in a series of Italian hemochromatosls families. The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci.

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U2 - 10.1093/hmg/2.5.571

DO - 10.1093/hmg/2.5.571

M3 - Article

SN - 0964-6906

VL - 2

SP - 571

EP - 576

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 5

ER -

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F

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