Abstract

VALIDATION OF RS 9971 SINGLE NUCLEOTIDE POLYMORPHISM (SNP) IN BLOOD CANCER PATIENTS OF HYDERABAD – INDIA

Halgurd Nadhim Mohammed*

Abstract

Cancer, the uncontrolled growth of cells leading to highly abnormal cell metabolism, is one of the major health hazards especially being the cause of death in most of the countries. Aim of the present work is to study rs 9971 Single Nucleotide Polymorphism (SNP) in the MCL1 gene, involved in Myeloid Leukemia, and their comparative presence in the diseased and control samples. The mutation causes the change in the single nucleotide from G to T leading to the change in the protein code of MCL 1 gene. Total 30 samples were collected for investigation in which 20 were diseased and 10 were control. DNA was extracted from all the samples and the purification was performed. Standard gene sequence of MCL 1 was retrieved from NCBI database and the SNP was identified in it. Specific primers were designed for the segment containing SNP. PCR was performed and the amplified products were sent for sequencing. The sequences were analyzed for the presence of SNP. SNP rs9971 was observed to be present in only three out of twenty diseased samples. This study can be laid as the basis for developing a diagnostic tool for the identification of myeloid leukemia.

Keywords: Myeloid Leukemia, MCL 1 gene, Single Nucleotide Polymorphism, rs 9177.