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題名 | Prenatal Diagnosis of Alpha-Thalassemia of Southeast Asian Deletion with Non-Radioactive Southern Hybridization=利用非放射性南方墨點雜交反應作東南亞缺失型甲型海洋性貧血之產前診斷 |
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作者 | 鄭博仁; 朱大成; 李建宏; 闕河晏; 林毓婷; 宋永魁; Cheng, Po-jen; Chu, Da-chang; Lee, Chien-hong; Chiueh, Ho-yen; Lin, Yu-ting; Soong, Yung-kwei; |
期刊 | 長庚醫學 |
出版日期 | 20030100 |
卷期 | 26:1 2003.01[民92.01] |
頁次 | 頁20-25 |
分類號 | 417.134 |
語文 | eng |
關鍵詞 | 非放射性南方墨點雜交反應; 甲型海洋性貧血; 絨毛採樣; 羊水穿刺; Non-radioactive southern blotting hybridization; α-thalassemia-1; Chorionic villus sampling; Genetic amniocentesis; |
中文摘要 | 背景:在臺灣地區甲型海性貧血的發生率甚高。提早的產前診斷足以減輕此一疾病對家庭及健康照護體系的負擔。本研究嚐試利用非射性南方墨點雜交反應來達成此一目標。 方法:取得兼妻皆為東南亞缺失型甲型洋性貧血異質因型者共72個絨毛採樣檢體及30個羊水細胞檢體。利用毛地黃標誌探討及鹼性磷酸脢冷光呈色系統〈dig-alkoline phosphatase detection system〉作非放性南方墨點雜交反應以為產前遺傳診斷。 結果:非放射性南方墨點雜交反應顯示絨毛採樣檢體19個案(26%)及羊水細胞檢體5個(17%)出現10kb及4kb片段,表示其為東南亞缺失型甲型洋性貧血同質配合的基因型。這24個(100%)被診斷為東南亞缺失型甲型海洋性貧血同質配合的基因的個案經引產後取個流產胚胎的DNA檢體,皆經南方墨點雜交反應進一步確認其基因型。 結論:目前,對於夫妻分帶有東南亞缺失型甲型海洋性貧血異質基因者,非放射性南方異點雜交反應法在早期診斷東南亞缺失型甲型海洋性貧血同質基因個案是一個兼具環保與準確性且值得推廣的理想方法。 |
英文摘要 | Background: α-thalassemia is a common hereditary disease in Taiwan. Affected patients always carry a heavy burden of morbidity and early death. Prenatal diagnosis had reduced the disease burden on families and the health care system. This study evaluated a new non-radioactive Southern blotting bybridization method for prenatal diagnosis of this disease. Methods: Seventy two chorionic villi smples (CVS) and 30 amniocyte samples from 102 pregnancies of couples who were both heterozygous for α-thalassemia-1 of the Southeast Asian (SEA) type deletion were studied. A non-radioactive Southeast Asian (SEA) type deletion were studied. A non-radioactive southern blotting hybridization method using a dig-alkaline phosphate detection system was developed for use in this study. Results: Non-radioactive Southern blotting hybridization data showed that 19(26%) CVS and five (17%) amniotic fluid samples had 10Kband 4Kb fragments, indicating homozygosity of the α-thalassemia-1 SEA type deletion. DNA samples were extracted from most of the aborted tissue of the 24 fetuses with a diagnosis of homozygous for theα-thalassemia-1 SEA type deletion. Homozygosity forα-thalassemia-1 SEA type deletion was reconfirmed by Southern blotting hybridization in all of these samples. Conclusions: The non-radioactive Southern hybridization protocol used in this study allows efficient and accurate early prenatal diagnosis of α-thalassemia-1 SEA type deletion. It can be routinely used for testing couples who both carry the α-thalassemia-1 SEA type deletion. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。