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題 名 | Molecular Study and Prenatal Diagnosis of α-And β-Thalassemias in Chinese=中國人甲型與乙型海洋貧血的分子生物學研究與產前診斷 |
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作 者 | 柯滄銘; 徐湘民; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 97:1 1998.01[民87.01] |
頁 次 | 頁5-15 |
分類號 | 417.134 |
關鍵詞 | 中國人; 甲型海洋貧血; 乙型海洋貧血; 分子生物學; 產前診斷; Molecular characterization; α-thalassemia; β-thalassemia; Prenatal diagnosis; Genetic counseling; |
語 文 | 英文(English) |
英文摘要 | Thalassemia is one of the most common single gene diseases worldwide. Populations in southern China and Taiwan have high prevalence rates of α -and β -thalassemias. This review summarizes the current status of molecular studies, carrier screening, and prenatal diagnosis of thalassemia in Chinese. There are three genotypes of α -thalassemia 1 and at least six of α -thalassemia 2 in Chinese. For α - thalassemia 1, the South-East Asian deletion is the most common, followed by the Thai then Philippino deletions. For α -thalassemia 2, the rightward deletion is the most common, followed by the leftward deletion, and the nondeletional defects Hb Constant Spring and Hb Quong Sze. Twenty-eight different β -thalassemia mutations have been reported. Four mutations, IVS- Ⅱ -654 (C → T), codons 41/42 frameshift (-TCTT), and nonsense codons 17(A → T) and -28(A → G), account for more than 90% of mutant alleles. For detection of α -thalassemia, polymerase chain reactionrelated techniques are mainly used. Southern blot hybridization is still useful, especially for prenatal diagnosis. For detection of β -thalassemia mutations, analysis of amplification-created restriction sites and reverse dot blot hybridization have been extensively used. In Taiwan, a national screening program incorporating hematological and molecular biological methods for thalassemia detection in pregnant women has been in progress for 5 years. Prenatal diagnosis has been performed in more than 1,800 pregnancies, including 1,500 cases at risk for homozygous α - thalassemia 1 and 300 for β -thalassemia major, resulting in early prenatal diagnosis and termination of pregnancies affected with homozygous α -thalassemia 1 and an approximately 70% decrease in the number of newborns affected with β -thalassemia major. In mainland China, only one large-scale screening program is in place. Characterization of undefined alleles, a higher awareness of the disease among physicians and the general public, and improvement of the service network will be important for early prenatal diagnosis and prevention of the disease in the future. |
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