https://scholars.lib.ntu.edu.tw/handle/123456789/530295
標題: | Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system | 作者: | Chien S.-C. CHIEN-NAN LEE Hung C.-C. PO-NIEN TSAO Su Y.-N. FON-JOU HSIEH |
公開日期: | 2003 | 卷: | 23 | 期: | 13 | 起(迄)頁: | 1092-1096 | 來源出版物: | Prenatal Diagnosis | 摘要: | Objective: To describe a family on whom it was possible to perform a rapid prenatal diagnosis for chronic granulomatous disease (CGD) using a denaturing high-performance liquid chromatography (DHPLC) system. Methods: For a family whose first-born, a boy, suffered from X-linked chronic granulomatous disease, fetal DNA was obtained from an ongoing pregnancy by amniocentesis early in the second trimester. Denaturing high-performance liquid chromatography and direct sequencing were used to attempt to detect the previously identified X-linked chronic granulomatous disease mutation. Results: Our studies predicted that the fetus in question was not likely to be affected by chronic granulomatous disease, which was demonstrated to be correct at birth. Conclusions: Here, we introduce a molecular diagnostic tool (DHPLC) for an effective and exact prenatal diagnosis of normality for the second-born child, as determined from amniocentesis during the second trimester. Copyright ? 2003 John Wiley & Sons, Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0347089081&doi=10.1002%2fpd.761&partnerID=40&md5=f02bc8deefbe66bd33c90845d6b85d81 https://scholars.lib.ntu.edu.tw/handle/123456789/530295 |
ISSN: | 0197-3851 | DOI: | 10.1002/pd.761 | SDG/關鍵字: | amniocentesis; article; case report; chronic granulomatous disease; denaturing high performance liquid chromatography; diagnostic accuracy; diagnostic value; DNA determination; DNA sequence; fetus; fetus karyotyping; gene mutation; human; male; prenatal diagnosis; priority journal; second trimester pregnancy; X chromosome linked disorder; Amniocentesis; Chromatography, High Pressure Liquid; Chromosomes, Human, X; Diagnosis, Differential; DNA; DNA Primers; Female; Fetus; Genetic Counseling; Granulomatous Disease, Chronic; Humans; Karyotyping; Linkage (Genetics); Male; Membrane Glycoproteins; Mutation; NADPH Oxidase; Nucleic Acid Denaturation; Pedigree; Polymerase Chain Reaction; Pregnancy; Pregnancy Trimester, Second |
顯示於: | 醫學系 |
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