Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

被引：97

作者：

Oostra, Anneke B. ^{[1
]}

Nieuwint, Aggie W. M. ^{[1
]}

Joenje, Hans ^{[1
]}

de Winter, Johan P. ^{[1
]}

机构：

[1] Vrije Univ Amsterdam, Dept Clin Genet, Med Ctr, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands

来源：

ANEMIA | 2012年 / 2012卷

关键词：

D O I：

10.1155/2012/238731

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 Cinduced 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.

引用

页数：9

共 45 条

[41] SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype [J].

Stoepker, Chantal ;

Hain, Karolina ;

Schuster, Beatrice ;

Hilhorst-Hofstee, Yvonne ;

Rooimans, Martin A. ;

Steltenpool, Jurgen ;

Oostra, Anneke B. ;

Eirich, Katharina ;

Korthof, Elisabeth T. ;

Nieuwint, Aggie W. M. ;

Jaspers, Nicolaas G. J. ;

Bettecken, Thomas ;

Joenje, Hans ;

Schindler, Detlev ;

Rouse, John ;

de Winter, Johan P. .

NATURE GENETICS, 2011, 43 (02) :138-U85

[42]

Timeus F, 2000, HAEMATOLOGICA, V85, P431

[43] Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome [J].

van der Lelij, Petra ;

Oostra, Anneke B. ;

Rooimans, Martin A. ;

Joenje, Hans ;

de winter, Johan P. .

ANEMIA, 2010, 2010

[44] Mutation of the RAD51C gene in a Fanconi anemia-like disorder [J].

Vaz, Fiona ;

Hanenberg, Helmut ;

Schuster, Beatrice ;

Barker, Karen ;

Wiek, Constanze ;

Erven, Verena ;

Neveling, Kornelia ;

Endt, Daniela ;

Kesterton, Ian ;

Autore, Flavia ;

Fraternali, Franca ;

Freund, Marcel ;

Hartmann, Linda ;

Grimwade, David ;

Roberts, Roland G. ;

Schaal, Heiner ;

Mohammed, Shehla ;

Rahman, Nazneen ;

Schindler, Detlev ;

Mathew, Christopher G. .

NATURE GENETICS, 2010, 42 (05) :406-U63

[45] Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism [J].

Waisfisz, Q ;

Morgan, NV ;

Savino, M ;

de Winter, JP ;

van Berkel, CGM ;

Hoatlin, ME ;

Ianzano, L ;

Gibson, RA ;

Arwert, F ;

Savoia, A ;

Mathew, CG ;

Pronk, JC ;

Joenje, H .

NATURE GENETICS, 1999, 22 (04) :379-383

← 1 2 3 4 5 →