Literature DB >> 3133104

Fanconi's anemia--chromosome breakage studies in homozygotes and heterozygotes.

J Rosendorff1, R Bernstein.   

Abstract

The in vitro enhancement of chromosome breakage by diepoxybutane (DEB) and mitomycin C (MMC) was studied in 24 Fanconi's anemia (FA) homozygotes and 28 heterozygotes. Both drugs were shown to enhance chromosome breakage significantly in the homozygotes. In the great majority of cases, DEB and MMC stressing are reliable techniques for the definitive cytogenetic diagnosis of FA homozygosity. However, the present study provides no evidence that individual FA heterozygotes can be differentiated from normal individuals on the basis of spontaneous, DEB- or MMC-induced chromosome breakage.

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3133104     DOI： 10.1016/0165-4608(88)90027-1

Source DB:  PubMed          Journal:  Cancer Genet Cytogenet        ISSN： 0165-4608


  6 in total

1.  Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.

Authors:  Viktoria N Evdokimova; Reagan K McLoughlin; Sharon L Wenger; Stephen G Grant
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

2.  Body proportions in Fanconi anemia heterozygotes.

Authors:  S Mohan; P Lakshminarayanan; P Sowmya; M Venkatadesikalu; V Pushpa
Journal:  Indian J Pediatr       Date:  2000-11       Impact factor: 1.967

3.  Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

Authors:  Laure Gineau; Céline Cognet; Nihan Kara; Francis Peter Lach; Jean Dunne; Uma Veturi; Capucine Picard; Céline Trouillet; Céline Eidenschenk; Said Aoufouchi; Alexandre Alcaïs; Owen Smith; Frédéric Geissmann; Conleth Feighery; Laurent Abel; Agata Smogorzewska; Bruce Stillman; Eric Vivier; Jean-Laurent Casanova; Emmanuelle Jouanguy
Journal:  J Clin Invest       Date:  2012-02-22       Impact factor: 14.808

4.  Characterization of the mus308 gene in Drosophila melanogaster.

Authors:  E A Leonhardt; D S Henderson; J E Rinehart; J B Boyd
Journal:  Genetics       Date:  1993-01       Impact factor: 4.562

5.  Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

Authors:  Johan J P Gille; Karijn Floor; Lianne Kerkhoven; Najim Ameziane; Hans Joenje; Johan P de Winter
Journal:  Anemia       Date:  2012-06-21

6.  Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.

Authors:  Lixian Chang; Weiping Yuan; Huimin Zeng; Quanquan Zhou; Wei Wei; Jianfeng Zhou; Miaomiao Li; Xiaomin Wang; Mingjiang Xu; Fengchun Yang; Yungui Yang; Tao Cheng; Xiaofan Zhu
Journal:  BMC Med Genomics       Date:  2014-05-15       Impact factor: 3.063
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.