High-resolution melting analysis for noninvasive prenatal diagnosis of IVS-II-I (G-A) fetal DNA in minor beta-thalassemia mothers
| Autor: | Mehrnoush Kowsaryan, Abbass Alipour, Ali Banihashemi, Mandana Zafari, Pooria Gill |
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| Rok vydání: | 2015 |
| Předmět: |
Fetus
medicine.diagnostic_test business.industry Maternal Serum Screening Tests DNA Mutational Analysis beta-Thalassemia Obstetrics and Gynecology Beta thalassemia Chorionic villus sampling Prenatal diagnosis Gold standard (test) Real-Time Polymerase Chain Reaction medicine.disease Molecular biology High Resolution Melt Real-time polymerase chain reaction Pregnancy Pediatrics Perinatology and Child Health Humans Point Mutation Medicine Female business |
| Zdroj: | The Journal of Maternal-Fetal & Neonatal Medicine. :1-6 |
| ISSN: | 1476-4954 1476-7058 |
| DOI: | 10.3109/14767058.2015.1124263 |
| Popis: | The high-resolution melting (HRM) technique is fast, effective and successful method for mutation detection. The aim of this study was to determine the sensitivity and specificity of the HRM method for detection of a paternally inherited mutation in a fetus as a noninvasive prenatal diagnosis of β-thalassemia.Genomic DNAs were prepared from 50 β-thalassemia minor couples whose pregnancy was at risk for homozygous β-thalassemia. Ten milliliters of the maternal blood from each pregnant woman were collected and after separating plasma stored at -80 °C until analysis. The extracted DNAs were analyzed by HRM real-time PCR for detection of IVS-II-I (G-A) as a paternally inherited mutation. The gold standard was the result of a chorionic villus sampling by a standard reverse dot blotting test.The sensitivity and specificity of HRM real-time PCR were 92.6% and 82.6%, respectively. Also, the positive and negative predictive values were 86.2% and 90.47%, respectively.HRM real-time PCR was a sensitive and specific method for determining the paternally inherited mutation in the fetus at risk with thalassemia major. |
| Databáze: | OpenAIRE |
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