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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
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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