傳遞-不平衡相關檢定在錯誤基因型資料之表現

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許鳳如(Feng-Ju Hsu) 查詢紙本館藏

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統計研究所

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)

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摘要(中)

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。

摘要(英)

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.

關鍵字(中)

★ 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

關鍵字(英)

★ robust test
★ linkage disequilibrium
★ triad family
★ transmission/disequilibrium test
★ mode of inheritance
★ error model

論文目次

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

參考文獻

參考文獻
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指導教授

鄭光甫(Kuang-Fu Cheng)

審核日期

2006-7-6

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