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

Anne L. Trewick | Zendy; Julia S. El-Sayed Moustafa | Zendy; Adam J. de Smith | Zendy; Philippe Froguel | Zendy; Gottfried Greve | Zendy; Pål R. Njølstad | Zendy; Lachlan Coin | Zendy; Alexandra I. F. Blakemore | Zendy

Open Access

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

Author(s) -

Anne L. Trewick,

Julia S. El-Sayed Moustafa,

Adam J. de Smith,

Philippe Froguel,

Gottfried Greve,

Pål R. Njølstad,

Lachlan Coin,

Alexandra I. F. Blakemore

Publication year - 2011

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2010.159558

Subject(s) - allele , genotype , single nucleotide polymorphism , nondisjunction , genetics , biology , genotyping , snp genotyping , snp array , microbiology and biotechnology , aneuploidy , gene , chromosome

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.

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