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Two new polymorphisms but no mutations of the KIT gene in patients with myelodysplasia at positions corresponding to human FMS and murine W locus mutational hot spots.

Publication ,  Journal Article
Bowen, DT; Padua, RA; Burnett, AK; deCastro, CM; Kaufman, RE
Published in: Leukemia
November 1993

The KIT proto-oncogene encodes a tyrosine kinase receptor which plays a critical role in haemopoiesis. We have screened genomic DNA from bone marrow mononuclear cells of 46 patients with myelodysplasia (MDS) for mutations/deletions of exons 6, 13, 17, and 21 of the KIT gene (stem cell factor receptor) using polymerase chain reaction (PCR), polyacrylamide gel electrophoresis, and autoradiography to detect single-stranded conformational polymorphisms (SSCP). These exons include positions analogous to those mutated in the FMS gene (colony-stimulating factor-1 receptor) in myelodysplastic syndrome (MDS) and mutated/deleted in the Dominant White Spotting mouse (W locus) which results in macrocytic anaemia. Two different gel running conditions were used for each exon. Polymorphisms were identified only at 4 degrees C in exon 17 (three out of 44 MDS samples and two of 21 DNA samples from normal subjects), and in the non-coding region of exon 21 (five out of 34 MDS samples and seven out of 19 normals). Direct sequencing identified a G to A base change at nucleotide 3169 within exon 21, and a C to T change at position 2415 in exon 17. No conformational changes suggestive of mutations or deletions have been found to date, although we cannot rule out low frequency clonal abnormalities undetectable by our method, which has a sensitivity in our hands of approximately 5%. Polymorphisms occur frequently in the KIT gene. Together with this study, a total of five have been described.

Duke Scholars

Published In

Leukemia

ISSN

0887-6924

Publication Date

November 1993

Volume

7

Issue

11

Start / End Page

1883 / 1885

Location

England

Related Subject Headings

  • Receptors, Colony-Stimulating Factor
  • Receptor Protein-Tyrosine Kinases
  • Proto-Oncogenes
  • Proto-Oncogene Proteins c-kit
  • Proto-Oncogene Proteins
  • Proto-Oncogene Mas
  • Polymorphism, Genetic
  • Polymerase Chain Reaction
  • Myelodysplastic Syndromes
  • Mutation
 

Published In

Leukemia

ISSN

0887-6924

Publication Date

November 1993

Volume

7

Issue

11

Start / End Page

1883 / 1885

Location

England

Related Subject Headings

  • Receptors, Colony-Stimulating Factor
  • Receptor Protein-Tyrosine Kinases
  • Proto-Oncogenes
  • Proto-Oncogene Proteins c-kit
  • Proto-Oncogene Proteins
  • Proto-Oncogene Mas
  • Polymorphism, Genetic
  • Polymerase Chain Reaction
  • Myelodysplastic Syndromes
  • Mutation