A candidate gene for Hereditary Hemochromatosis (HFE) has been recently cloned from a region 4 cM telomeric to HLA-A on the short arm of chromosome 6. This gene, defined HFE, is mutated in a high proportion of HFE patients. Positional cloning of HFE has been difficult, because of the extended region of linkage disequilibrium observed around the gene and of the rarity of recombination events in this DNA area. Here we describe a crossover in an Italian HFE patient which occurred close to the HFE gene in a restricted interval between D6S2221 and D6S2240-D6S2238 markers. The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.

Roetto, A., Sbaiz, L., Bosio, S., Piperno, A., Fargion, S., Carella, M., et al. (1997). A recombination event close to HFE gene in Hereditary Hemochromatosis. ANNALES DE GENETIQUE, 40(3), 150-153.

A recombination event close to HFE gene in Hereditary Hemochromatosis

PIPERNO, ALBERTO;
1997

Abstract

A candidate gene for Hereditary Hemochromatosis (HFE) has been recently cloned from a region 4 cM telomeric to HLA-A on the short arm of chromosome 6. This gene, defined HFE, is mutated in a high proportion of HFE patients. Positional cloning of HFE has been difficult, because of the extended region of linkage disequilibrium observed around the gene and of the rarity of recombination events in this DNA area. Here we describe a crossover in an Italian HFE patient which occurred close to the HFE gene in a restricted interval between D6S2221 and D6S2240-D6S2238 markers. The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.
Articolo in rivista - Articolo scientifico
Adult; Chromosome Mapping; Hemochromatosis; Humans; Italy; Linkage Disequilibrium; Male; Genetic Markers; Recombination, Genetic
English
1997
40
3
150
153
none
Roetto, A., Sbaiz, L., Bosio, S., Piperno, A., Fargion, S., Carella, M., et al. (1997). A recombination event close to HFE gene in Hereditary Hemochromatosis. ANNALES DE GENETIQUE, 40(3), 150-153.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/58221
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