Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.

doi:10.1186/1471-2350-13-29

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Article

Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.

BMC medical genetics - 20 Apr 2012

Minguzzi Stefano, Molloy Anne M, Peadar Kirke, Mills James, Scott John M, Troendle James, Pangilinan Faith, Brody Lawrence, Parle-McDermott Anne

Abstract excerpt

BACKGROUND: Polymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of cleft in an Irish cohort. This required the development of a new melting curve assay to genotype the technically challenging MTHFD1L triallelic deletion/insertion polymorphism (rs3832406). METHODS:...

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PMID: 22520921
DOI: 10.1186/1471-2350-13-29
PMCID: PMC3419639

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