Abstract

Rapid detection of BMP6 gene single nucleotide polymorphism by PCR-RFLP in sickle cell patients

Author(s): S.Pandey, R.Ranjan, R.M.Mishra, Sweta Pandey, V.Shah, R.Saxena

We present here to the application of the PCR-RFLP technique for the determination of the BMP6 gene single nucleotide polymorphism and frequency of five BMP6 SNPs among Asian Indian sickle cell patients. Five knownSNPsofBMP6 gene; rs73719353, rs73719341, rs73719318, rs73381662 and rs73381650were determined using the Sfc1, BccI,HpyCH4V, ScrFI and AflIII restriction enzyme. BMP6 gene SNPs amplified using the PCR technique. Each amplified fragment is subsequently digestedwith the appropriate enzyme. However all individual among patient and control groups were wild type and frequency was zero. Protocols for PCR amplification and restriction digestion were standardized for 5 single nucleotide polymorphisms in BMP6 genes. Their presence can be detected and identified in the DNA samples and would further be used in their establishment asmolecular markers in osteonecrosis afflicted sickle cell disease patients, for early diagnosis. This technique has the advantages of rapidity, safety, and costeffectiveness.