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研究生: 許鳳如
Feng-Ju Hsu
論文名稱: 傳遞-不平衡相關檢定在錯誤基因型資料之表現
The performances of TDT type association tests under genotyping errors
指導教授: 鄭光甫
Kuang-Fu Cheng
口試委員:
學位類別: 碩士
Master
系所名稱: 理學院 - 統計研究所
Graduate Institute of Statistics
畢業學年度: 94
語文別: 中文
論文頁數: 59
中文關鍵詞: 遺傳模式誤差模式連鎖不平衡傳遞不平衡檢定穩健檢定三元體家庭
外文關鍵詞: robust test, linkage disequilibrium, triad family, transmission/disequilibrium test, mode of inheritance, error model
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  • 檢定疾病基因座與標識基因座間是否存在連鎖不平衡之相關性研究,可利用家庭資料或是族群資料進行分析,當二基因座間存在連鎖,利用家庭資料檢定應該會得到較穩健的分析結果,是近年遺傳流行病學重要方法之一。目前最廣為應用的檢定方法為傳遞-不平衡檢定(transmission/ disequilibrium tests,TDT)及其他隨著TDT統計量衍生的檢定統計量,但是在複雜的遺傳問題分析中若出現基因型判別錯誤時,在虛無假設下的型I誤差會隨其錯誤率越高而越大,無法維持一固定顯著水準。因此本文試圖研究這種問題,並且將所提的統計量與既有的統計量互相比較,希望能得到一個較穩健的檢定統計量,作為日後研究及分析遺傳資料的選擇。


    Family-based and population-based are two types of designs for association studies.The family-based study in general is more robust than population-based study due to population stratification if the genetic markers and disease-susceptibility locus were linkage.Thus, family-based association study is a useful approach for detecting linkage and linkage disequilibrium between a disease gene and a marker in genetic analysis. Recently, the transmission/ disequilibrium test (TDT) and the allied tests have become popular tools in studies of association test. However, for the complex hereditary analysis, the type I error can''t maintain a fixed significant level because of varing errors in genotyping. In this article, we try to construct and discuss statistics which are more robust under genotyping error.

    目錄 1 緒論.....................................1 1.1 基因定位應用之統計方法及發展...........1 1.2 病例-對照研究與親本對照研究 ...........5 2 研究背景及文獻回顧.......................8 2.1 三元體資料分析方法及傳遞不平衡檢定.....8 2.2 遺傳模式及檢定統計量..................10 2.3 基因判別型錯誤........................16 3 穩健的相關性檢定之研究方法..............19 3.1 穩健的相關性檢定方法..................19 3.2 穩健的相關性檢定方法之模擬研究........26 4 在誤差模式下相關性檢定之穩健統計量......32 4.1 基因型判別錯誤之誤差模式..............32 4.2 穩健統計量在誤差模式之模擬研究........35 5 結論....................................46 參考文獻..................................49

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