臺灣博碩士論文加值系統

目的：本研究提出一個新的近期融合族群全基因體初步掃描的方法。此法可判斷疾病基因座是否座落於某特定的染色體上。
方法：本研究以來源族群的標記基因頻率差做為係數，整合同一染色體上的各個標記基因座的資訊，進行整合的連鎖檢定。無等稱之為「全染色體傳遞不平衡檢定」。我們並以電腦摸擬方式探討此新檢定在近期融合族群中的統計性質。
結果：結果顯示，在第二代及第三代的近期融合族群中，「全染色體傳遞不平衡檢定」的檢力均較多標記基因座「傳遞不平衡檢定（TDT）」使用Bonferroni法校正為高。即使所引用的來源族群標記基因頻率的先驗資訊不甚正確，新法的檢力仍較高，同時其型Ⅰ誤差並沒有升高。
結論：本研究所提之新法有較高的檢力，使用的資料型式易蒐集，且所需的先驗知識只需大略估計。在適當的近期融合族群中，應可做為研究者全基因體初步掃描時使用的方法。

Objectives: We develop a new method for initial genomewide scan in recently admixed populations. This new method can identify the candidate chromosome that encompasses a disease-susceptibility gene. We refer to this new method as "chromosome-wide transmission/disequilibrium test (TDT-WC)".
Methods: The "TDTWC" performs a simultaneous transmission/disequilibrium test (TDT) for the multiple makers at the same chromosome. This new method obviates the need for multiple-testing correction. The information of these markers was integrated by our a priori knowledge about the differences in the marker allele frequencies between the founding populations. Computer simulation was performed to study the statistical properties of the new method.
Results: The simulation shows that TDTCW is more powerful then conventional multiple-markers TDT with Bonferroni correction both in the second and in the third generations of the admixed population. Even if there are some inaccuracy in our a priori knowledge, the new method is still more powerful and the typeⅠerror is not inflatted.
Conclusions: This new method is powerful and its ascertainment scheme is simple and easy to achieve .The accuracy of the a priori knowledge is not crucial.The TDTCW is a promising alternative for initial genomewide scan in recently admixed populations.

一、 前言 1
二、 資料型態 4
三、 全染色體傳遞不平衡檢定 7
A. 檢定方法 7
B. 係數決定 9
C. 全基因體掃描 14
四、 電腦模擬 15
A. 方法 15
B. 結果 19
五、 討論 23
六、 參考文獻 27
附錄 31

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