Journal article

Accurate Single-Nucleotide Polymorphism Allele Assignment in Trisomic or Duplicated Regions by Using a Single Base-Extension Assay with MALDI-TOF Mass Spectrometry

Anne L Trewick, Julia S El-Sayed Moustafa, Adam J de Smith, Philippe Froguel, Gottfried Greve, Pal R Njolstad, Lachlan JM Coin, Alexandra IF Blakemore

CLINICAL CHEMISTRY | AMER ASSOC CLINICAL CHEMISTRY | Published : 2011

Abstract

BACKGROUND: The accurate assignment of alleles embedded within trisomic or duplicated regions is an essential prerequisite for assessing the combined effects of single-nucleotide polymorphisms (SNPs) and genomic copy number. Such an integrated analysis is challenging because heterozygotes for such a SNP may be one of 2 genotypes-AAB or ABB. Established methods for SNP genotyping, however, can have difficulty discriminating between the 2 heterozygous trisomic genotypes. We developed a method for assigning heterozygous trisomic genotypes that uses the ratio of the height of the 2 allele peaks obtained by mass spectrometry after a single-base extension assay. METHODS: Eighteen COL6A2 (collagen,..

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University of Melbourne Researchers