Detection of c-kit gene mutations in Exon 11 of Leukemias

Objective: To determine the frequency of mutations in exon 11 of the c-kit gene in patients with leukemia.Material and Methods: The study included 50 leukemia patients (31 with acute myeloid leukemia, 5 with acute lymphoblastic leukemia, 9 with chronic myeloid leukemia, and 5 with chronic lymphocytic leukemia) that underwent PCR-SSCP, followed by direct DNA sequencing.Results: In all, 28 of the leukemia patients were male and 22 were female, with a mean age of 31.88 years (range: 2-65 years).In total, 20 mutations in 19 patients were identified, including lys550Asn, Tyr568Ser, Ile571Thr, Thr574Pro, Gln575His, Tyr578Pro, Asp579His, His580Gln, Arg586Thr, Asn587Asp, and Arg588Met, as well as novel point mutations at codons Ile563lys, Val569leu, Tyr570Ser, and Pro577Ser.Ile571leu substitution was observed in 2 patients and Trp582Ser substitution was observed in 3 patients.Conclusion: The results suggest that mutations in exon 11 of the c-kit gene might be useful as molecular genetic markers for leukemia Key Words: C-kit, leukemia, SSCP, Mutation Özet Amaç: lösemili hastalarda c-kit geni ekson 11 mutasyonlarının sıklığını belirlemek.Gereç ve Yöntemler: bu çalışma PCR-SCCP ve sonrasında direkt DNA sekanslama yapılan 50 lösemi hastası (31 akut myeloid lösemi, 5 akut lenfoblastik lösemi, 9 kronik myeloid lösemi ve 5 kronik lenfositik lösemi) hastası ile yapıldı.bulgular: Genel olarak lösemi hastalarının 28'i erkek ve 22'si kadındı ve ortalama yaş 31,88 (aralık: 2-65) yıldı.Toplam olarak 19 hastada lys550Asn, Tyr568Ser, Ile571Thr, Thr574Pro, Gln575His, Tyr578Pro, Asp579His, His580Gln, Arg586Thr, Asn587Asp ve Arg588Met ve ayrıca Ile563lys, Val569leu, Tyr570Ser ve Pro577Ser kodonlarında yeni nokta mutasyonları olmak üzere 20 mutasyon saptandı.Ile571leu yerine konması 2 hastada ve Trp582Ser yerine konması 3 hastada görüldü.