- 期刊
- OpenAccess
產前細胞遺傳學檢查現況
Current Prenatal Cytogenetics
摘要
自1879年，Arnold開始從事人類染色體的研究後；這一百多年來人類染色體的研究，由於相關研究技術的進步，而有許多驚人的進展。1956年Tjio與Livan確定人類染色體數目，男性應為44+XY；而女性為44+XX。1970年代起，由於可以辨認染色體帶紋（banding）的各種染色體染色技術的出現，因此揭露了染色體缺失（deletion）、重覆（duplication）等構造異常。而目前結合分子生物學及細胞遺傳學兩種研究技術；即利用特定已知的基因探針，和傳統的細胞遺傳學技術，更可以提供快速且精確的產前遺傳診斷，精確地偵測出不易發現的基因序列的異常，因此在臨床醫學有重大的貢獻。
並列摘要
Cytogenetic methods have relied on the tissue culture techniques of generate adequate mitotic cells for the analysis of chromosome disorders for genetic diagnosis. The introductions of chromosome banding techniques revolutionalized cytogenetic analysis and allow the evaluation of mitotic cells for structural and numerical aberrations and define the nature of any rearrangement. Each chromosome could be precisely identified on the basis of its unique banding pattern. Previously obscure structural abnormalities and new deletion or duplication syndromes were uncovered. The addition of high-resolution banding techniques made it possible to study the chromosomes in greater detail and allowed for the detection of previously undetectable aberrations. The combination of molecular and cytogenetic methods has aided in the detection of submicroscopic structural changes, the characterization of marker chromosomes and had advanced our understanding of cytogenetic defects in chromosomal disorders as well as cancers.
延伸閱讀
- 黃美智、林秀娟、陳祉伶、黃子容（2017）。新興產前遺傳檢測之臨床運用及倫理考量。護理雜誌，64(5)，5-10。https://doi.org/10.6224/JN.000062
- 柯滄銘（1990）。產前遺傳診斷的最新發展。當代醫學，(201)，536-536。https://doi.org/10.29941/MT.199007.0004
- 鄭富元（2014）。細胞遺傳學檢驗新趨勢。台灣醫檢會報，29(3)，7-8。https://www.airitilibrary.com/Article/Detail?DocID=P20140729002-201409-201503260013-201503260013-7-8
- Wong, L. J. C., Herbert, W. S., Zhang, Y. H., Hsu, E., Wong, I. H., Wladyka, C., Woo, M. S., & Bowman, C. M. (2002). Prenatal Genetic Counseling on a Woman with Advanced Maternal Age and a Family History of a Known Genetic Disease. The Changhua Journal of Medicine, 7(2), 75-80. https://www.airitilibrary.com/Article/Detail?DocID=16801504-200204-7-2-75-80-a
- Karaşahin, K. E., Gezginç, K., Ulubay, M., & Ergün, A. (2008). Fetal Ovarian Cysts Diagnosed during Prenatal Ultrasound Screening. Taiwanese Journal of Obstetrics & Gynecology, 47(2), 215-217. https://doi.org/10.29787/TJOG.200806.0015