| Turkish Journal of Cancer |
| 2009, Volume 39, Number 3, Page(s) 095-103 |
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| C-kit proto-oncogene deletion and point mutation at exon 8, 17 in human acute myeloid leukemia |
| SYED RIZWAN HUSSAIN1, FAISAL AHMED1, HENA NAQVI1, PRADYUMN SINGH2, FARZANA MAHDI1, SUNIL G BABU3 |
1Era’s Lucknow Medical College & Hospital, Department of Biotechnology, Lucknow-India 2Christian Medical College, Department of Pathology, Vellore-India 3Babasaheb Bhimrao Ambedkar University, Department of Biotechnology, Lucknow-India |
Human genomic DNA from 90 cases of acute myeloid leukemia
(AML) were screened for mutations in the c-kit gene.
C-kit is a receptor tyrosine kinase class III that is expressed
by early hematopoietic progenitor cells and plays crucial
role in hematopoietic stem cell proliferation, differentiation
and survival. Exon 8 and 17 are the frequent sites of mutations
in the leukemia cases. To determine the spectrum
of mutations at exon 8 and 17 of c-kit gene in 90 acute
myeloid leukemia AML cases, we have done Polymerase
Chain Reaction (PCR) Single-strand conformational polymorphism
(SSCP) followed by DNA sequencing. The c-kit
mutation frequencies in exon 8 were 25.55% (23/90) and
in exon 17 were 34.44% (31/90) in AML cases. We have
detected two contrary deletions Tyr 418del and Asp 419del
in exon 8 in 23 cases and three point mutations that is
Asp816Val, Asp820Gly and Asn822Lys in exon 17, in 31
cases; respectively. Each and every mutations detected in
our study are located in region of the receptor’s extracellular
domain and intracellular domain of second catalytic
region. It gives the impression that incidence of mutation at
exon 8 and 17 is elevated and possibly involved in clinical
pathogenesis of AML and utilizable tool as the molecular
prognostic marker. [Turk J Cancer 2009;39(3):95-103]
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