ISSN: 1300-7777 E-ISSN: 1308-5263
Detection of c-kit gene mutations in Exon 11 of Leukemias [Turk J Hematol]
Turk J Hematol. 2012; 29(1): 10-16 | DOI: 10.5505/tjh.2012.60320  

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

Syed Rizwan Hussain1, Sunil G Babu2, Hena Naqvi1, Pradyumn Singh1, Farzana Mahdi1
1Era’s Lucknow Medical College And Hospital, Lucknow, India.
2Babasaheb Bhimrao Ambedkar University, Lucknow, India.

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.

Keywords: C-Kit, Leukemia, SSCP, Mutation.


Syed Rizwan Hussain, Sunil G Babu, Hena Naqvi, Pradyumn Singh, Farzana Mahdi. Detection of c-kit gene mutations in Exon 11 of Leukemias. Turk J Hematol. 2012; 29(1): 10-16

Corresponding Author: Farzana Mahdi, India


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