Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of Segmental Duplications | Zendy

Qiwei Guo | Zendy; Xiaotian Li | Zendy; Yulin Zhou | Zendy

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Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of Segmental Duplications

Author(s) -

Qiwei Guo,

Xiaotian Li,

Yulin Zhou

Publication year - 2012

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2011.178475

Subject(s) - high resolution melt , aneuploidy , trisomy , amplicon , multiplex , multiplex ligation dependent probe amplification , karyotype , biology , population , primer (cosmetics) , chromosome , genetics , melting curve analysis , segmental duplication , prenatal diagnosis , microbiology and biotechnology , polymerase chain reaction , medicine , fetus , chemistry , genome , pregnancy , environmental health , organic chemistry , gene , exon , gene family

Several molecular methods, such as quantitative fluorescence PCR and multiplex ligation-dependent probe amplification, currently serve as important adjuncts to traditional karyotyping for the diagnosis of aneuploidy; however, the performance or throughput limitations of these methods hinder their use for routine prenatal diagnosis and population-based postnatal screening. We developed a novel approach, called "high-resolution melting analysis of segmental duplications," to detect common aneuploidies.

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