Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
+44 1223 790975
ISSN: ISSN: 2157-7412
+44 1223 790975
Mahrukh H Zargar
Head, Advanced Centre for Human Genetics, Sher-i-Kashmir Institute of Medical Sciences, Srinagar- 190011,
India
Research Article
Clastogen-Induced Chromosomal Breakage Analysis of Suspected Fanconis Anemia Cases of Kashmir, North India
Author(s): Tahir M Malla, Mahrukh H Zargar, Fayaz A Dar and Zafar A ShahTahir M Malla, Mahrukh H Zargar, Fayaz A Dar and Zafar A Shah
Clastogen induced chromosome breakage analysis is widely used for the differential diagnosis of Fanconi's anemia. Mitomycin-C (MMC) induced chromosome fragility test was performed on the cultured lymphocytes of 50 children with clinical suspicion of Fanconi's anemia. According to the results of the MMC test, the patients were divided into two subgroups: FA displaying typical sensitivity to MMC and non FA. The present study revealed 7(14%) of examined patients to have a FA cellular phenotype with increased MMC-induced chromosome fragility. The percentage of MMC-induced aberrant cells was increased more than 36 times in FA patients (Mean=67.14%) when compared to non FA patients (Mean=1.82). The number of MMC-induced breaks/cells was more than 09 times higher in FA patients (Mean=2.42 breaks/cell) when compared to non FA patients (Mean=0.25 breaks/cells). Our results indicate that the cl.. View More»