title: Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India.
abstract: BACKGROUND
  Acute Myeloid Leukaemia (AML) is a cancer of blood-forming cells in bone marrow. C-kit gene is a Receptor Tyrosine Kinase class III (RTK) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. It is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely to contribute in the development of leukaemia in humans. Exon 11 of c-Kit gene is the frequent site for mutations in different kinds of tumours.
  
  
  METHODS
  In order to determine the frequency and prevalence of exon 11 mutations in 51 AML cases, we have done polymerase chain reaction-single-strand conformational polymorphism followed by direct DNA sequencing.
  
  
  RESULTS
  The c-kit mutations in exon 11 were detected in 15.68% (8/51) in AML cases. We have detected totally ten missense mutations in eight AML cases those include Lys550Asn, Tyr568Ser, Ile571Leu, Tyr578Pro, Trp582Ser and Arg588Met and novel missense mutations at codons Ile563Lys and Val569Leu. Mutations at codons Ile571Leu and Trp582Ser was found in two independent cases.
  
  
  CONCLUSIONS
  The presence of c-kit mutations in our study adds to investigative spectrum of AML cases. Since the c-kit mutations are seen in other malignancies, mutations in exon 11 of the c-kit gene might be involve in pathogenesis and represent useful predictive genetic marker in AML. Further studies in larger group of cases possibly will be required to determine the prognostic implications and to investigate how these mutations are co-related to the progression and pathogenesis of AML.
authors.affiliation: Dept. of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, India.
authors.forename: S R
authors.initials: SR
authors.lastname: Hussain
authors.affiliation: Dept. of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, India.
authors.forename: S T
authors.initials: ST
authors.lastname: Raza
authors.affiliation: Dept. of Biotechnology, Babasaheb Bhimrao Ambedkar University, Lucknow, India.
authors.forename: S G
authors.initials: SG
authors.lastname: Babu
authors.affiliation: Dept. of Pathology, Christian Medical College, Vellore, India.
authors.forename: P
authors.initials: P
authors.lastname: Singh
authors.affiliation: Dept. of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, India.
authors.forename: H
authors.initials: H
authors.lastname: Naqvi
authors.affiliation: Dept. of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, India.
authors.forename: F
authors.initials: F
authors.lastname: Mahdi
keywords: Acute Myeloid Leukaemia; Mutation; Polymerase Chain Reaction; Proto-Oncogene proteins c-kit; Single-Stranded Conformational Polymorphism