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頁籤選單縮合
題 名 | Molecular Characterization and Prenatal Diagnosis of α-Thalassemia in Taiwanese=臺灣人之甲型海洋性貧血的分子生物學分析和產前診斷 |
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作 者 | 柯滄銘; | 書刊名 | 中華民國婦產科醫學會會刊雜誌 |
卷 期 | 37:2 1998.06[民87.06] |
頁 次 | 頁43-52 |
分類號 | 417.134 |
關鍵詞 | 甲型海洋性貧血; 產前診斷; 遺傳諮詢; 巴氏血紅素胎兒水腫; α-thalassemia; Prenatal diagnosis; Genetic counseling; Hb bart's hydrops fetalis; |
語 文 | 英文(English) |
中文摘要 | 海洋性貧血是世界上最常見的一種單一基因疾病。 臺灣人的甲型海洋性貧血的 發生率不低。同合子的第一型甲型海洋貧血會導致胎兒在周產期死亡。孕婦也常有種種的合 併症。最近分子生物學和產科學的進步使得這種疾病的產前診斷成為可能。本綜論文章主要 探討我國在甲型海洋性貧血的分子生物學研究以及在產前診斷的現況。在臺灣人身上目前總 共發現有二種第一型甲型海洋性貧血的突變型,四種第二型甲型海洋性貧血的突變型。在第 一型突變中,東南亞缺失型最常見,其次為菲律賓缺失型。第二型突變型中,右側缺失型最 常見, 其餘依序為左側缺失型,和兩種非缺失型缺陷, Hb Constant Spring 和 Hb Quong Sze。 為篩檢甲型海洋性貧血,核酸聚合酵素連鎖反應相關的技術最常被使用。然而在產前 診斷方面,必須使用南氏轉移法以降低因母體 DNA 污染所產生的誤差。 自 1990 年開始, 我國即推行孕婦海洋性貧血篩檢網路,這套系統除了使用血液學檢查,也利用分子生物學的 技術。 共有 200 例懷孕因為懷疑胎兒罹患同合了第一型甲型海洋性貧血而接受產前診斷。 經診斷為重型的胎兒,可以引產以避免母親可能發生的合併症。 15 年前的統計顯示重型甲 型海洋性貧血症造成 75 %胎兒水腫,而最近數年的統計顯示因本症而導致的胎兒水腫已大 幅降低到 30 %,顯然我國推行的防治計劃已得到一定的成果。雖然我國學界對於甲型海洋 性貧血的突變型作了相當的研究,不過仍有少部份的帶因者,其突變型尚不清楚,有待進一 步的探討。另一方面,產科醫師以及一般民眾仍然需要對本症有進一步的了解,提高孕婦參 與此一篩檢網路,以進一步早期診斷此種疾病,減少對孕婦的身心傷害。 |
英文摘要 | Thalassemia is a common single gene disease which occurs worldwide. Taiwanese have a high rate of occurrence of �` -thalassemia. Homozygous �` -thalassemia 1 leads to perinatal fetal death and is associated with various maternal complications. Recent advances in molecular biology and obstetrics have made prenatal diagnosis of this disease possible. This review is to summarize the current status of molecular study and prenatal diagnosis of �` -thalassemia in Taiwanese. There are two genotypes of �` -thalassemia 1 and four of �` -thalassemia 2 found in Taiwanese. For �` -thalassemia 1, the South East Asian deletion is the most common, followed by the Filipino delections. For �` -thalassemia 2, the rightward deletion is the most common, followed by the leftward delection, and the nondelectional defects Hb Constant Spring and Hb Quong Sze. For carrier screening of �` -thalassemia, polymerase chain reaction-based techniques are mainly used. However, Southern blot hybridization must be used for prenated diagnosis in order to reduce the possibility of maternal DNA contaminatioon. In Taiwan, a national screening program incorporating hematological and molecular biological methods for thalassemia detection in pregnant women has been in progress since 1990. Prenatal diagnosis has been performed in 2,000 at-risk pregnancies for homozygous �` -thalassemia 1, resulting in early prenatal diagnosis and termination of pregnancies affected with homozygous �` -thalassemia 1. Moecular characterization of undefined mutations, higher awareness of the disease by physicians and the general public, and improved screening network will be important for early prenatal diagnosis and prevention of the disease in the future. |
本系統中英文摘要資訊取自各篇刊載內容。