Detection of c-kit gene mutations in Exon 11 of Leukemias
OBJECTIVE: To identify mutations in c-kit gene in exon 11 in Leukemia cases.METHODS: In order to determine the frequency of mutations of Exon 11 of c-kit gene in 50 Leukemia cases (31 samples Acute Myeloid Leukemia, 5 samples Acute Lymphoblastic Leukemia, 9 samples Chronic Myeloid Leukemia and 5 samples Chronic Lymphocytic Leukemia), we have done PCR-SSCP followed by direct DNA sequencing. RESULTS: Of 50 Leukemia cases, 28 were male and 22 were female with ages ranging from 2 to 65 years. The mean age of cases was 31.88 years. We have detected total twenty mutations in nineteen cases that include 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 is found in two independent cases whereas Trp582Ser substitution is found in three individual cases.CONCLUSION: These observations suggest that mutations in exon 11 of the c-kit gene might represent useful molecular genetic markers in Leukemia.

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Authors: Syed Rizwan Hussain, Sunil G Babu, Hena Naqvi, Pradyumn Singh, Farzana Mahdi

Keywords:

• Year: 2012
• Number: 1
• Referance No: 60320

---

• 

  Figure 1: SSCP-PAGE analysis of exon 11 (257 bp) shows electrophoresis mobility shift on native page. Lane 1 is the control, and lanes 2-5 are patients (no shift in patient 04, and a shift in patients 09, 11, and 20)
• 

  Figure 2: Amino acid sequences of exon 11 of the c-kit gene. The sequence starts at codon 550 and ends at 591. The wild-type sequence is shown above. Point mutations are shown in