- 期刊
Prenatal Diagnosis of Classical Phenylketonuria with Polymerase Chain Reaction, Automatic Sequencing, and Linkage Analysis with Short Tandem Repeats
並列摘要
Objective: To share our experience of prenatal classical phenylketonuria (PKU) diagnosis using the polymerase chain reaction (PCR), automatic sequencing, and linkage analysis with short tandem repeats (STRs). Materials and Methods: Eight pregnant women who had delivered one baby with confirmed classical PKU were enrolled. They underwent amniocentesis and blood sampling. Genomic DNA was extracted from peripheral blood leukocytes and amniotic cells. Oligonucleotide primers for each specific exon, intron, enhancer, and STR of intron 3 were used for PCR amplification. The sequence was analyzed and the mutant pattern was determined. Results: Of the eight fetuses, one was normal, one had disease, five were disease-free carriers, and one test was indeterminate. Identified mutations included R408Q (n=4), R241C (n=3), R413P (n=1), A434D (n=1), and G257V (n=1). Conclusion: The combination of amniocentesis and PCR can successfully detect fetuses with classical PKU early in pregnancy. Based on our experience, common mutations were R408Q and R241C.
延伸閱讀
- 吳雅惠、蕭如君、許凱倫、李建瑩（2014）。Clinical Benefits and Risks of Prenatal Treatment by Dexamethasone in Individuals with Typical Congenital Adrenal Hyperplasia。臺灣臨床藥學雜誌，22(3)，167-173。https://doi.org/10.6168/FJCP.2014.2203.05
- Lin, C. Y., Chen, C. P., Liau, C. L., Su, P. H., Tsao, T. F., Chang, T. Y., & Wang, W. (2009). Prenatal Diagnosis of Monosomy 17p (17p13.3→PTER) Associated with Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Millerdieker Lissencephaly Syndrome in a Fetus. Taiwanese Journal of Obstetrics & Gynecology, 48(4), 408-411. https://doi.org/10.29787/TJOG.200912.0013
- Liu, J., Bernier, F., Lauzon, J., Lowry, R. B., & Chernos, J. (2011). Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports. Genetics Research International, 2011(), 255-263. https://doi.org/10.4061/2011/976398
- Chou, Y. Y., Chen, C. C., Kuo, P. L., Tsai, W. H., & Lin, S. J. (2004). Russell-Silver Syndrome: Molecular Diagnosis of Maternal Uniparental Disomy of Chromosome 7 Using Methylation-Specific Polymerase chain Reaction Assay and Single Nucleotide polymorphisms Genotyping. Journal of the Formosan Medical Association, 103(10), 797-802. https://doi.org/10.29828/JFMA.200410.0012
- 邱尚彥（2014）。Association Study on Genetic Polymorphism of Peroxisome Proliferator-Activated Receptor-γ Coactivator-1α, Mitochondrial DNA Content and Ischemic Stroke〔碩士論文，臺北醫學大學〕。華藝線上圖書館。https://www.airitilibrary.com/Article/Detail?DocID=U0007-2407201421591800