Detection of William's Tumor 1 gene Mutation in Sudanese patients with Acute Myeloid Leukaemia

Abstract

This study was cross sectional hospital based to detect the mutation of WT1 gene in Sudanese patients with acute myeloid leukemia, this study was carried out in Radiation and Isotopes Center in Khartoum ,during the period March 2012 to Feb Dec 2013. Fifty one Sudanese patients with Acute Myeloid Leukemia were informed about the study and the agreement for participation was obtained, twenty six were male and twenty five were female, their ages range between 10 – 70 years old. 5.0 ml of a venous blood were collected in Ethylene Diamine Tetra Acetic acid container, Deoxyribonucleic Acid extraction was done in all patient samples using the salting out method and the quality of extracted DNA were checked on 1% agrose gel by electrophoresis, and then Polymerase Chain Reaction amplification for exon 7 of Williams's tumor 1 gene was done using the specific primers from the published data and the Polymerase Chain Reaction product was 214 bp. For mutation detection restriction fragment length polymorphism was done in all Polymerase Chain Reaction products from the patient samples using the restriction enzyme AflIII. The mean age of study population was (2.51), and tribal group distribution among the study population were 38 (74.5%) from Afro Asiatic, 3 (5.9%) from Nilo Saharan and 10 (19.6%) from Niger Kordofanian tribal group. genotyping distribution among the study population were 27 (52.9%) were normal (A/A) of Williams's tumor1 mutation, 22 (43.1%) were heterozygous (A/G) of Williams's tumor 1 gene mutation and only 2 (3.9%) of patients were homozygous (G/G) of Williams's tumor 1 gene mutation In this study we have found the mutation of Williams's tumor 1 gene in 24 of 51 (47.1%), Acute Myeloid Leukemia cases, This mutation frequency is not equivalent to the previous studies of Williams's tumor 1 gene mutation in Acute Myeloid Leukemia, Subsequent studies revealed that Williams's tumor 1 is mutant in approximately 10 - 15% of primary. In conclusion, the result suggest a possible role of Williams's tumor 1 gene mutation in the development of Acute Myeloid Leukemia in Sudanese and that is because of the heterozygous nature of the mutation , this gene act as an oncogene that inherited as dominant allele (only one mutant allele could causes the disease).