A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7

Human Mutation
Mathew W MooreP D Cotter

Abstract

Uniparental disomy of chromosome 7 (UPD7) is associated with abnormal phenotypic effects because of inappropriate expression of imprinted genes on chromosome 7. Based on the differential methylation of the promoter region of the imprinted PEG1/MEST locus at 7q32, we designed a multiplex methylation PCR (mPCR) assay to rapidly distinguish UPD7 from biparental inheritance of chromosome 7. Primers were designed to produce different sized PCR amplicons based on the parent of origin-specific methylation at this locus; electrophoresis of PCR amplicons showed a 189-bp product from the methylated maternal allele and a 109-bp product from the unmethylated paternal allele. This mPCR assay correctly predicted the chromosome 7 imprinting status in normal control and UPD7 samples. Previous assays for UPD7 required genotyping of the proband and parents, or separate maternal- and paternal-specific mPCR reactions. The advantage of this assay is that parental samples are not required and that amplification of both alleles in the same reaction is simpler and provides an internal control. This multiplex mPCR assay will be useful in screening for UPD7 in patients with Silver-Russell syndrome (SRS; also Russell-Sliver syndrome, RSS), primordial gro...Continue Reading

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Citations

Oct 23, 2008·European Journal of Human Genetics : EJHG·Deniz KanberBernhard Horsthemke
May 10, 2005·Journal of Medical Genetics·S BruceJ Kere
Jan 6, 2006·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·Thomas EggermannHartmut A Wollmann
Jul 1, 2008·European Journal of Medical Genetics·Nadine SchöherrThomas Eggermann
Aug 15, 2008·Clinical Genetics·T EggermannG Binder
Nov 9, 2010·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang

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