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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessi...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368163/ https://www.ncbi.nlm.nih.gov/pubmed/22693659 http://dx.doi.org/10.1155/2012/238731 |
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author | Oostra, Anneke B. Nieuwint, Aggie W. M. Joenje, Hans de Winter, Johan P. |
author_facet | Oostra, Anneke B. Nieuwint, Aggie W. M. Joenje, Hans de Winter, Johan P. |
author_sort | Oostra, Anneke B. |
collection | PubMed |
description | Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are—by definition—hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. Here we provide a detailed laboratory protocol for the accurate assessment of the FA diagnosis as based on mitomycin C-induced chromosomal breakage analysis in whole-blood cultures. The method also enables a quantitative estimate of the degree of mosaicism in the lymphocyte compartment of the patient. |
format | Online Article Text |
id | pubmed-3368163 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-33681632012-06-12 Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis Oostra, Anneke B. Nieuwint, Aggie W. M. Joenje, Hans de Winter, Johan P. Anemia Research Article Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are—by definition—hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. Here we provide a detailed laboratory protocol for the accurate assessment of the FA diagnosis as based on mitomycin C-induced chromosomal breakage analysis in whole-blood cultures. The method also enables a quantitative estimate of the degree of mosaicism in the lymphocyte compartment of the patient. Hindawi Publishing Corporation 2012 2012-05-24 /pmc/articles/PMC3368163/ /pubmed/22693659 http://dx.doi.org/10.1155/2012/238731 Text en Copyright © 2012 Anneke B. Oostra et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Oostra, Anneke B. Nieuwint, Aggie W. M. Joenje, Hans de Winter, Johan P. Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis |
title | Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis |
title_full | Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis |
title_fullStr | Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis |
title_full_unstemmed | Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis |
title_short | Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis |
title_sort | diagnosis of fanconi anemia: chromosomal breakage analysis |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368163/ https://www.ncbi.nlm.nih.gov/pubmed/22693659 http://dx.doi.org/10.1155/2012/238731 |
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