Polymerase chain reaction detection methods of Survival Motor Neuron genes: a review

Abstract

Two SMN (survival motor neuron) genes are presented in the human genome: SMN1, which present the telomeric gene whose homozygous deletion or mutation like gene conversion, causes spinal muscular atrophy (SMA), and SMN2, the centromeric version whose copy number modulates the phenotype of SMA These genes are commonly detected by Polymerase Chain reaction-based methods, and these are MLPA (Multiplex ligation-dependent probe amplification), qPCR (quantitative Polymerase chain reaction) and PCR-RFLP (Polymerase chain reaction-Restriction fragment length polymorphism). This paper reviews the current standing of the most common PCR methods used in the detection of spinal muscular atrophy genes. MLPA, qPCR, and PCR-RFLP currently represent the most common methods of choice for the detection of mutations, especially for deletion and duplication mutations.