Laser desorption mass spectrometry for point mutation detection

Genotyping single nucleotide polymorphisms by mass spectrometry

“…Another approach uses allele-specific PCR and analysis of the products in the MALDI (Taranenko et al, 1996). Forward primers differ only in their 3 0 -terminal nucleotide (complementary to one allele of the SNP); reverse primers differ in length (9 bases).…”

Novel Mass Spectrometry Mutation Screening for Contaminant Impact Analysis

“…The approach is to amplify the desired region of a DNA template by PCR using two primers which have their 3'-ends extend to the site of expected mutation. To test this approach, a synthetic oligo with 60 nucleotides, whose sequence is derived from human p53 mRNA from codon 144 to 163 was used as template 53 with two normal allele-specific primers in a PCR. The length of the primers used are 16 and 23 nucleotides.…”

“…This type of mutation is found in certain human lung tumors. Encouraged by these results, we also measured G551D point mutation 53 in cystic fibrosis transmembrane conductance regulator (CFTR) 54 . The G551D mutation in the CFTR gene involves a G to A mutation which results in a Gly to Asp amino acid substitution.…”

Matrix-assisted laser desorption/ionization for short tandem repeat loci

“…Details have been described previously. 44 In applications of MALDI for DNA analysis, it is often necessary to purify DNA amplified by PCR to remove enzyme and buffer salts. Purification was performed by G-25 Sephadex spin column (Quick Spin TM (TE) Columns, Boehringer Mannheim Corporation, Indianapolis, IN, USA).…”

“…38 In addition to the measurements of the sizes of DNAs, MALDI has also been used for sequencing short oligonucleotides. [39][40][41][42][43] Disease diagnosis based on the detection of point mutation 44,45 and base deletion 46 by MALDI have also been demonstrated. In this work, we extend the application of MALDI for STR analysis.…”