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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Guo, Qiwei Xiao, Li Zhou, Yulin |
| Description | Country affiliation: China Author Affiliation: Guo Q ( Molecular Diagnostics Laboratory, Department of Medical Genetics, Prenatal Diagnosis Center of Xiamen, Maternal and Child Health Hospital, Xiamen, Fujian, China.) |
| Abstract | BACKGROUND: 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. METHODS: In this method, similar sequences located on different chromosomes are amplified simultaneously with a single primer set; the PCR products are then analyzed by high-resolution melting. Aneuploidy-associated dosage abnormalities produce different ratios of similar amplicons, which produce melting curves that are detectably different from those of samples from unaffected individuals. We applied this method to DNA samples isolated from individuals with trisomy 21 (n = 48), trisomy 18 (n = 10), trisomy 13 (n = 3), 45,X (n = 8), and 47,XXY (n = 14), and from unaffected controls (n = 48). RESULTS: As judged by the karyotyping results, our method attained 100% diagnostic sensitivity and 99.6% diagnostic specificity. Moreover, our method was able to detect a change in chromosome dosage as low as 1.05-fold. CONCLUSIONS: This novel method clearly differentiates samples of patients with common aneuploidies from those of unaffected controls, while markedly simplifying the assays and reducing time and costs. The assay has sufficient throughput to meet the demands of large-scale testing, such as population-based postnatal screening, and is thus suitable for routine use. |
| File Format | HTM / HTML |
| ISSN | 00099147 |
| e-ISSN | 15308561 |
| Journal | Clinical Chemistry |
| Issue Number | 6 |
| Volume Number | 58 |
| Language | English |
| Publisher | American Association for Clinical Chemistry |
| Publisher Date | 2012-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Turner Syndrome Research Support, Non-u.s. Gov't Trisomy Sensitivity And Specificity Prenatal Diagnosis Sex Chromosome Disorders Aneuploidy Segmental Duplications, Genomic Discipline Laboratory Medicine Chromosome Disorders Down Syndrome Discipline Clinical Chemistry Chromosomes, Human, Pair 18 Karyotyping Polymerase Chain Reaction Chromosomes, Human, Pair 13 Genetics Diagnosis Xyy Karyotype |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry |
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