https://scholars.lib.ntu.edu.tw/handle/123456789/631561
標題: | Molecular characterization of severe α-thalassemias causing hydrops fetalis in Taiwan | 作者: | TSANG-MING KO FON-JOU HSIEH Hsu, P M Lee, T Y |
關鍵字: | alpha-thalassemia | DNA hybridization | perinatal death | 公開日期: | 1-六月-1991 | 卷: | 39 | 期: | 3 | 來源出版物: | American journal of medical genetics | 摘要: | alpha-Thalassemia hydrops fetalis is a common disorder in Taiwan. The condition causes perinatal death and many maternal obstetrical complications. In order to determine the molecular defects of this condition in Chinese, 87 unrelated families with this disorder were collected in the past 4 years. The molecular defects were studied by Southern blotting and DNA hybridization with phi zeta 1-globin gene and LO (a 0.4 kb BamHI/EcoRI fragment in the 5' flanking region of the zeta 2-globin gene) probes. Eighty-one (93.1%) fetuses had homozygous Southeast Asian deletion (- -SEA/- -SEA). Five (5.7%) fetuses were compound heterozygotes for the Southeast Asian deletion and Thailand deletion (- -SEA/- -THAI). The remaining fetus was a compound heterozygote for the Southeast Asian deletion and an uncharacterized nondeletional defect (- -SEA/(alpha alpha)Th). The molecular defects of alpha-thalassemia hydrops fetalis in Chinese are heterogeneous. This fact has important implications for genetic counseling and prenatal diagnosis. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/631561 | ISSN: | 0148-7299 | DOI: | 10.1002/ajmg.1320390314 |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。