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請使用永久網址來引用或連結此文件:
http://ir.cmu.edu.tw/ir/handle/310903500/30434
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| 題名: | Mutation analysis of PTEN/MMAC1 in acute myeloid leukemia |
| 作者: | Liu, TC;Lin, PM;Chang, JG;Lee, JP;Chen, TP;Lin, SF |
| 貢獻者: | 附設醫院醫研部;Kaohsiung Med Univ Hosp, Dept Internal Med, Div Hematol Oncol, Kaohsiung, Taiwan;Isu Univ, Dept Nursing, Kaohsiung, Taiwan;China Med Coll Hosp, Dept Med Res, Taichung, Taiwan |
| 日期: | 2000 |
| 上傳時間: | 2010-09-24 14:55:20 (UTC+8) |
| 出版者: | WILEY-LISS |
| 摘要: | Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of the anterior horn cells of the spinal cord. The gene most highly associated with SMA is the survival motor neuron (SMN) gene. In this study, we present an analysis of messenger RNA (mRNA) expression of the SMN gene in peripheral blood mononuclear cells in normal subjects, SMA carriers and patients from 20 SMA families. We found at least 6-8 different transcripts of SMN gene formed by alternative splicing involving exons 3, 5 and 7. We compared transcripts from the different types of SMA and found no definite differences in transcript patterns and amounts. Normal subjects with the telomeric SMN (SMNT) gene only had variable splicing resulting in several transcripts, the most dominant being a transcript containing all coding regions, However, SMA patients with the centromeric SMN (SMNC) gene only had a higher degree of splice variation and tended to show little or no exon 7. These results demonstrate that SMNT and SMNC genes participate in alternative splicing phenomena, The different splicing patterns support the view that the SMNT gene is responsible for: SMA disease. We also analyzed the transcripts from several tissues of an SMA fetus who had a homozygous SMNT gene deletion. Different splicing patterns were also found in these tissues, and were similar to the splicing pattern of leukocytes. We compared the major transcripts from exons 4 to 8 of both the SMNT and SMNC genes and found that the relative proportion varied among normal subjects, SMA carriers and patients. This approach could be used as a novel diagnostic method. We suggest that analyzing the mRNA expression of the SMN gene in peripheral blood mononuclear cells offers an apparently reliable technique for separating SMA patients, carriers, and normal individuals. (C) 2000 Elsevier Science B.V. All rights reserved. |
| 關聯: | AMERICAN JOURNAL OF HEMATOLOGY 63(4):170-175 |
| 顯示於類別: | [台中附設醫院] 期刊論文
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