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http://ir.cmu.edu.tw/ir/handle/310903500/30678
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題名: | Evidence of parvovirus B19 infection in patients of pre-eclampsia and eclampsia with dyserythropoietic anaemia |
作者: | Yeh, SP;Chiu, CF;Lee, CC;Peng, CT;Kuan, CY;Chow, KC |
貢獻者: | 附設醫院醫研部;China Med Univ, China Med Univ Hosp, Dept Med Res, Taichung 414, Taiwan;China Med Univ, China Med Univ Hosp, Dept Internal Med, Taichung 414, Taiwan;China Med Univ, China Med Univ Hosp, Dept Obstet, Taichung 414, Taiwan;China Med Univ, China Med Univ Hosp, Dept Paediat, Taichung 414, Taiwan |
日期: | 2004 |
上傳時間: | 2010-09-24 14:59:52 (UTC+8) |
出版者: | BLACKWELL PUBLISHING LTD |
摘要: | Avascular necrosis of the femoral head (ANFH) is a debilitating disease that commonly leads to destruction of the hip joint in adults. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia ( increased tendency to form thrombi) and hypofibrinolysis ( reduced ability to lyse thrombi), alcohol intake, and steroid use are risk factors for ANFH. We recently identified two families with ANFH showing autosomal dominant inheritance. By applying linkage analysis to a four-generation pedigree, we excluded linkage between the family and three genes related to thrombophilia and hypofibrinolysis: protein C, protein S, and plasminogen activator inhibitor. Furthermore, by a genomewide scan, a significant two-point LOD score of 3.45 ( recombination fraction [theta] = 0) was obtained between the family with ANFH and marker D12S85 on chromosome 12. High-resolution mapping was conducted in a second family with ANFH and replicated the linkage to D12S368 ( pedigree I: LOD score 2.47, theta = 0.05 pedigree II: LOD score 2.81, theta = 0.10). When an age-dependent-penetrance model was applied, the combined multipoint LOD score was 6.43 between D12S1663 and D12S85. Thus, we mapped the candidate gene for autosomal dominant ANFH to a 15-cM region between D12S1663 and D12S1632 on chromosome 12q13. |
關聯: | BRITISH JOURNAL OF HAEMATOLOGY 126(3):428-433 |
顯示於類別: | [台中附設醫院] 期刊論文
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