A test for Fanconi's anemia.

Abstract:

:A simple and reliable cytogenetic test for Fanconi's anemia (FA) that is based on the hypersensitivity of FA cells to mitomycin C (MC) is described. Equal volumes of whole blood from a patient in whom the diagnosis of FA is suspected and from a normal person of the opposite sex are co-cultured in phytohemagglutinin-containing medium in the presence and absence of MC. After five days' co-cultivation, 100 quinacrine-stained metaphases from both the MC-containing and the MC-free cultures are examined for the presence of a Y chromosome using fluorescence microscopy. In all bona fide FA patients in whom testing was successful, hypersensitivity to MC was readily demonstrated by the striking deficiency of FA metaphases (0.9% to 14.9%) in the MC-containing co-cultures. In contrast, none of the three patients with Diamond-Blackfan anemia and none of the five with undiagnosed conditions reminiscent of FA exhibited hypersensitivity to MC; cells from them, from parents of FA patients, and from several normal laboratory personnel constituted approximately half of the metaphases (40.4% to 71.2%) of MC-containing co-cultures, as would be expected in the absence of hypersensitivity to MC.

journal_name

Blood

journal_title

Blood

authors

German J,Schonberg S,Caskie S,Warburton D,Falk C,Ray JH

subject

Has Abstract

pub_date

1987-06-01 00:00:00

pages

1637-41

issue

6

eissn

0006-4971

issn

1528-0020

journal_volume

69

pub_type

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