A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.

Genetic Testing and Molecular Biomarkers
Nora UrracaLawrence T Reiter

Abstract

The most common chromosomal abnormalities associated with autism are 15q11-q13 duplications. Maternally derived or inherited duplications of 15q pose a substantial risk for an autism phenotype, while paternally derived duplications may be incompletely penetrant or result in other neurodevelopmental problems. Therefore, the determination of maternal versus paternal origin of this duplication is important for early intervention therapies and for appropriate genetic counseling to the families. We adapted a previous single-reaction tube assay (high-resolution melting curve analysis) to determine the parent of origin of 15q duplications in 28 interstitial duplication 15q samples, one family and two isodicentric subjects. Our method distinguished parent origin in 92% of the independent samples as well as in the familial inherited duplication and in the two isodicentric samples. This method accurately determines parental origin of the duplicated segment and measures the dosage of these alleles in the sample. In addition, it can be performed on samples where parental DNA is not available for microsatellite analysis. The development of this single-tube assay will make it easier for genetic testing laboratories to provide parent-of-origi...Continue Reading

References

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Citations

Dec 7, 2013·The British Journal of Psychiatry : the Journal of Mental Science·Elliott ReesGeorge Kirov
Mar 16, 2013·Autism Research : Official Journal of the International Society for Autism Research·Nora UrracaLawrence T Reiter
May 25, 2013·Annals of Rehabilitation Medicine·Doug Ho ParkEun Geol Sim

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Methods Mentioned

BETA
PCR

Software Mentioned

LightCycler

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