https://scholars.lib.ntu.edu.tw/handle/123456789/597171
標題: | Prenatal diagnosis of Hb H disease due to compound heterozygosity for South‐East Asian deletion and Hb constant spring by polymerase chain reaction | 作者: | TSANG-MING KO LI-HUI TSENG FON-JOU HSIEH Lee T.-Y. |
關鍵字: | Constant Spring Hb H disease; Polymerase chain reaction; Prenatal diagnosis; South?east Asian deletion Hb | 公開日期: | 1993 | 卷: | 13 | 期: | 2 | 起(迄)頁: | 143-146 | 來源出版物: | Prenatal Diagnosis | 摘要: | A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South?east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South?east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated. Copyright ? 1993 John Wiley & Sons, Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0027533407&doi=10.1002%2fpd.1970130210&partnerID=40&md5=c06aeedf6fdb7ddc29af798901c25896 https://scholars.lib.ntu.edu.tw/handle/123456789/597171 |
ISSN: | 0197-3851 | DOI: | 10.1002/pd.1970130210 | SDG/關鍵字: | hemoglobin h; article; case report; female; fetus; gene deletion; hemoglobinopathy; heterozygosity; human; polymerase chain reaction; prenatal diagnosis; Abortion, Therapeutic; Adult; alpha-Thalassemia; Base Sequence; Blotting, Southern; Case Report; Chorionic Villi Sampling; Chromosome Deletion; DNA; Female; Fetal Diseases; Heterozygote; Human; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Pregnancy; Pregnancy Trimester, First; Support, Non-U.S. Gov't |
顯示於: | 基因體暨蛋白體醫學研究所 |
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