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

Nora Urraca, Lea Davis, Edwin H. Cook, N. Carolyn Schanen, Lawrence Reiter

Research output: Contribution to journalArticle

7 Citations (Scopus)

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-origin information and will provide important information to clinical geneticists about autism risk in these individuals.

Original languageEnglish (US)
Pages (from-to)571-576
Number of pages6
JournalGenetic Testing and Molecular Biomarkers
Volume14
Issue number4
DOIs
StatePublished - Aug 1 2010

Fingerprint

Autistic Disorder
Freezing
Genetic Counseling
Genetic Testing
Secondary Prevention
Chromosome Aberrations
Microsatellite Repeats
Alleles
Mothers
Phenotype
DNA
Trisomy Chromosome 15q

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. / Urraca, Nora; Davis, Lea; Cook, Edwin H.; Schanen, N. Carolyn; Reiter, Lawrence.

In: Genetic Testing and Molecular Biomarkers, Vol. 14, No. 4, 01.08.2010, p. 571-576.

Research output: Contribution to journalArticle

@article{ae148265c30b49e789d66b7cb06a76be,
title = "A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications",
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-origin information and will provide important information to clinical geneticists about autism risk in these individuals.",
author = "Nora Urraca and Lea Davis and Cook, {Edwin H.} and Schanen, {N. Carolyn} and Lawrence Reiter",
year = "2010",
month = "8",
day = "1",
doi = "10.1089/gtmb.2010.0030",
language = "English (US)",
volume = "14",
pages = "571--576",
journal = "Genetic Testing and Molecular Biomarkers",
issn = "1945-0265",
publisher = "Mary Ann Liebert Inc.",
number = "4",

}

TY - JOUR

T1 - A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications

AU - Urraca, Nora

AU - Davis, Lea

AU - Cook, Edwin H.

AU - Schanen, N. Carolyn

AU - Reiter, Lawrence

PY - 2010/8/1

Y1 - 2010/8/1

N2 - 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-origin information and will provide important information to clinical geneticists about autism risk in these individuals.

AB - 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-origin information and will provide important information to clinical geneticists about autism risk in these individuals.

UR - http://www.scopus.com/inward/record.url?scp=77955869501&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77955869501&partnerID=8YFLogxK

U2 - 10.1089/gtmb.2010.0030

DO - 10.1089/gtmb.2010.0030

M3 - Article

C2 - 20642357

AN - SCOPUS:77955869501

VL - 14

SP - 571

EP - 576

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

SN - 1945-0265

IS - 4

ER -