DOI: 10.1046/j.1365-2141.2003.04253.x. Scanning mutations of the 5′UTR regulatory sequence of <scp>l</scp>‐ferritin by denaturing high‐performance liquid chromatography: identification of new mutations

Scanning mutations of the 5′UTR regulatory sequence of l‐ferritin by denaturing high‐performance liquid chromatography: identification of new mutations

10.1046/j.1365-2141.2003.04253.x

Crossref journal-article

Wiley

British Journal of Haematology (311)

Abstract

Summary. Hereditary hyperferritinaemia cataract syndrome is an autosomal dominant disorder caused by heterogeneous mutations of the iron regulatory element (IRE) in the ferritin l‐chain mRNA. The mutations are rare and fast DNA scanning would facilitate diagnosis. The aim of the study was to compare the analytical performances of two fast DNA scanning techniques: denaturing high‐performance liquid chromatography (DHPLC) and double‐gradient denaturing gradient gel electrophoresis (DG‐DGGE). We analysed the sequence encoding the 5′ untranslated flanking region of ferritin l‐chain mRNA, which includes an IRE stem loop structure. The two systems unambiguously identified all the 12 accessible mutations in a single run, including the difficult C–G transversions. DHPLC and DG‐DGGE identified seven abnormal patterns in DNA samples from 47 subjects with unexplained hyperferritinaemia; all had mutations in the IRE sequence, including two not reported before: C36G and A37G. The scanning of 250 DNA samples from subjects genotyped for HFE led to the identification of four new mutations, all outside the IRE structure: C10T, C16T, C90T and del‐T156. We conclude that DHPLC, similar to DG‐DGGE, detects all the mutations in the l‐ferritin 5‘UTR sequence in a single run, and that various mutations occur outside the IRE structure.

Bibliography

Cremonesi, L., Paroni, R., Foglieni, B., Galbiati, S., Fermo, I., Soriani, N., Belloli, S., Ruggeri, G., Biasiotto, G., Cazzola, M., Ferrari, F., Ferrari, M., & Arosio, P. (2003). Scanning mutations of the 5â²UTR regulatory sequence of lâferritin by denaturing highâperformance liquid chromatography: identification of new mutations. British Journal of Haematology, 121(1), 173â179. Portico.

Authors 13

Laura Cremonesi (first)
Rita Paroni (additional)
Barbara Foglieni (additional)
Silvia Galbiati (additional)
Isabella Fermo (additional)
Nadia Soriani (additional)
Silvana Belloli (additional)
Giuseppina Ruggeri (additional)
Giorgio Biasiotto (additional)
Mario Cazzola (additional)
Francesca Ferrari (additional)
Maurizio Ferrari (additional)
Paolo Arosio (additional)

References 21 Referenced 30

10.1074/jbc.274.37.26439
{'key': 'e_1_2_8_3_1', 'first-page': '560', 'article-title': 'Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the l‐ferritin gene', 'volume': '84', 'author': 'Arosio C.', 'year': '1999', 'journal-title': 'Haematologica'} / Haematologica / Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the l‐ferritin gene by Arosio C. (1999)
10.1182/blood.V93.11.4020 / Blood / Description of a new mutation in the l‐ferrin iron‐responsive element associated with hereditary hyperferritinemia–cataract syndrome in a Spanish family by Balas A. (1999)
10.1038/ng1295-444
10.1046/j.1365-2141.2000.01920.x
{'key': 'e_1_2_8_7_1', 'first-page': '828', 'article-title': 'Mutation analysis of the HLA‐H gene in Italian hemochromatosis patients', 'volume': '60', 'author': 'Carella M.', 'year': '1997', 'journal-title': 'American Journal of Human Genetics.'} / American Journal of Human Genetics. / Mutation analysis of the HLA‐H gene in Italian hemochromatosis patients by Carella M. (1997)
10.1016/S1521-6926(02)90204-5
10.1182/blood.V90.2.814 / Blood / Hereditary hyperferritinemia–cataract syndrome: relationship between phenotypes and specific mutations in the iron‐responsive element of ferritin light‐chain mRNA by Cazzola M. (1997)
10.1046/j.0007-1048.2001.03310.x
{'key': 'e_1_2_8_11_1', 'first-page': '489', 'article-title': 'Recurrent mutations in the iron regulatory element of l‐ferritin in hereditary hyperferritinemia–cataract syndrome', 'volume': '84', 'author': 'Cicilano M.', 'year': '1999', 'journal-title': 'Haematologica'} / Haematologica / Recurrent mutations in the iron regulatory element of l‐ferritin in hereditary hyperferritinemia–cataract syndrome by Cicilano M. (1999)
10.1093/clinchem/45.1.35 / Clinical Chemistry / Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis by Cremonesi L. (1999)
10.1093/clinchem/47.3.491 / Clinical Chemistry / Double‐gradient denaturing gradient gel electrophoresis assay for identification of l‐ferritin iron‐responsive element mutations responsible for hereditary hyperferritinemia–cataract syndrome: identification of the new mutation C14G by Cremonesi L. (2001)
10.1046/j.1365-2141.2001.02513.x
10.1182/blood.V90.5.2084 / Blood / Hereditary hyperferritinemia–cataract syndrome caused by a 29‐base pair deletion in the iron responsive element of ferritin l‐subunit gene by Girelli D. (1997)
10.1046/j.1365-2141.2001.03116.x
{'key': 'e_1_2_8_17_1', 'first-page': '407a', 'article-title': 'l‐Ferritin Baltimore‐1: a novel mutation in the iron responsive element (C32G) as a cause of hyperferritinemia–cataract syndrome', 'volume': '94', 'author': 'Kato G.J.', 'year': '1999', 'journal-title': 'Blood'} / Blood / l‐Ferritin Baltimore‐1: a novel mutation in the iron responsive element (C32G) as a cause of hyperferritinemia–cataract syndrome by Kato G.J. (1999)
10.1182/blood.V91.11.4180 / Blood / Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia–cataract syndrome by Levi S. (1998)
10.1182/blood.V91.1.319.319_319_323 / Blood / A point mutation in the bulge of the iron‐responsive element of the l ferritin gene in two families with the hereditary hyperferritinemia–cataract syndrome by Martin M.E. (1998)
10.1182/blood.V91.1.367 / Blood / Hereditary hyperferritinemia–cataract syndrome: two novel mutations in the l‐ferritin iron‐responsive element by Mumford A.D. (1998)
10.1136/bjo.84.7.697
10.1002/humu.1130

Dates

Type	When
Created	20 years, 8 months ago (Dec. 21, 2004, 1:57 a.m.)
Deposited	1 year, 10 months ago (Oct. 15, 2023, 5:22 p.m.)
Indexed	1 year, 10 months ago (Oct. 16, 2023, 1:13 a.m.)
Issued	22 years, 5 months ago (April 1, 2003)
Published	22 years, 5 months ago (April 1, 2003)
Published Online	22 years, 5 months ago (April 1, 2003)
Published Print	22 years, 5 months ago (April 1, 2003)

Funders 0

None

BibTeX

@article{Cremonesi_2003, title={Scanning mutations of the 5′UTR regulatory sequence of <scp>l</scp>‐ferritin by denaturing high‐performance liquid chromatography: identification of new mutations}, volume={121}, ISSN={1365-2141}, url={http://dx.doi.org/10.1046/j.1365-2141.2003.04253.x}, DOI={10.1046/j.1365-2141.2003.04253.x}, number={1}, journal={British Journal of Haematology}, publisher={Wiley}, author={Cremonesi, Laura and Paroni, Rita and Foglieni, Barbara and Galbiati, Silvia and Fermo, Isabella and Soriani, Nadia and Belloli, Silvana and Ruggeri, Giuseppina and Biasiotto, Giorgio and Cazzola, Mario and Ferrari, Francesca and Ferrari, Maurizio and Arosio, Paolo}, year={2003}, month=apr, pages={173–179} }

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