Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

ZhouYulin,; Xiaoli,; WuQichang,; ZhangKaifeng,; GuoQiwei,

doi:10.1089/gtmb.2013.0373

Cited by 3 publications

(6 citation statements)

References 26 publications

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“…Our previous studies used DNA derived from amniocytes or peripheral blood lymphocytes as quantitative NCA standards to evaluate the resolution of corresponding HRM assays. 18,21,22 The NCA status of these standard samples was nonmosaic and was validated by their karyotypes. However, the NCA standard DNA derived from POC could be mosaic per se; therefore, in this study, we were unable to accurately evaluate the resolution of these five HRM assays using serial dilutions of the standard DNA.…”

Section: Discussionmentioning

confidence: 99%

“…18e20 It has been used in the screening of trisomies 13, 18, 21, and sex chromosome aneuploidies for prenatal diagnosis, and 47,XXY in infertile men. 21,22 This method has displayed high clinical sensitivity and specificity, as well as a high-resolution detection of mosaicism. Therefore, we developed a genetic test based on HRM and evaluated its accuracy for NCA screening.…”

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confidence: 99%

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Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss

Zhou

Jiang

et al. 2020

The Journal of Molecular Diagnostics

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss

Zhou

Jiang

et al. 2020

The Journal of Molecular Diagnostics

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“…Aneuploidy identification using melting curve analysis has been previously reported [ 9 , 11 , 13 , 16 , 17 ]. The earliest methods were based on allele quantification combined with melting curve analysis of SNP loci.…”

Section: Discussionmentioning

confidence: 99%

“…Many real-time PCR-based methods without post-PCR steps have also been developed [ 7 – 13 ]. Among them, paralogous sequence quantification technique-based methods are most ideal because simultaneous amplification of paralogous genes or segmental duplication sequences using a single pair of primers can maintain the original ratio between the test chromosomes and reference chromosomes and avoid the dependence on short tandem repeat polymorphisms or SNPs.…”

Section: Introductionmentioning

confidence: 99%

Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis

et al. 2017

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BackgroundDuring the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies.MethodsThis method is based on co-amplification of segmental duplications located on two different chromosomes using a single pair of primers. Segmental duplications have a high degree of sequence identity, but have single-nucleotide differences in some regions. These sequence differences can be quantified using melting curve analysis of dual-labeled probes to estimate the relative dosages of different chromosomes. We designed two quadruplex real-time PCR assays to detect aneuploidies of chromosomes 13, 18, 21, X and Y.ResultsWe examined 75 aneuploid DNA samples and 56 unaffected DNA control samples using these two assays and correctly identified all samples. Four cases of unbalanced translocation were also accurately detected. The observed averaged ratio for each chromosomal disorder was similar to the theoretically expected value.ConclusionsOur real-time assay is a robust, rapid, and easy to conduct technique for prenatal diagnosis of common aneuploidies, representing a competitive alternative for use in diagnostic laboratories.

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“…In potato, De Koeyer et al (2010 used HRM for genotyping diploid and tetraploid materials. Zhou et al (2014) proposed HRM analysis in humans as an alternative to karyotyping for rapid diagnosis of aneuploidy syndromes. Plants provide an excellent opportunity for a genome-wide investigation of aneuploid syndromes: sample size is not limited, phenotypes can be described and assessed in detail, and plant aneuploid populations provide a complex mixture of viable karyotypes (Henry et al 2010).…”

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Combined Use of Molecular Markers and High-Resolution Melting (HRM) to Assess Chromosome Dosage in Potato Hybrids

Villano

Miraglia

Iorizzo³

et al. 2015

JHERED

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In plants, the most widely used cytological techniques to assess parental genome contributions are based on in situ hybridization (FISH and GISH), but they are time-consuming and need specific expertise and equipment. Recent advances in genomics and molecular biology have made PCR-based markers a straightforward, affordable technique for chromosome typing. Here, we describe the development of a molecular assay that uses single-copy conserved ortholog set II (COSII)-based single nucleotide polymorphisms (SNPs) and the high-resolution melting (HRM) technique to assess the chromosome dosage of interspecific hybrids between a Solanum phureja-S. tuberosum diploid (2n = 2x = 24) hybrid and its wild relative S. commersonii. Screening and analysis of 45 COSII marker sequences allowed S. commersonii-specific SNPs to be identified for all 12 chromosomes. Combining the HRM technique with the establishment of synthetic DNA hybrids, SNP markers were successfully used to predict the expected parental chromosome ratio of 5 interspecific triploid hybrids. These results demonstrate the ability of this strategy to distinguish diverged genomes from each other, and to estimate chromosome dosage. The method could potentially be applied to any species as a tool to assess paternal to maternal ratios in the framework of a breeding program or following transformation techniques.

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Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

Abstract: The SD-HRM method was able to effectively detect common NCAs in 1550 prenatal samples. We propose that SD-HRM could serve as an effective alternative option to the currently used prenatal RAD methods.

Cited by 3 publications

References 26 publications

Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss

Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss

Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis

Combined Use of Molecular Markers and High-Resolution Melting (HRM) to Assess Chromosome Dosage in Potato Hybrids

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