戴 政臺灣大學:流行病學研究所謝宗仁Hsieh, Tsung-JenTsung-JenHsieh2010-05-052018-06-292010-05-052018-06-292009U0001-1308200917255800http://ntur.lib.ntu.edu.tw//handle/246246/180791利用群體資料或家族資料進行相關研究，已經廣泛應用於複雜疾病的基因定位。Karlin (1979)提出一種主效基因指標(MGI)利用核心家庭資料探索數量性狀的遺傳結構方式，然而，該指標卻可能因為次方轉換參數選取的不適當以及性狀的遺傳率低導致謬誤的結論。為了解決此問題，本文利用親本－子代三元體資料建構二種新主效基因指標，能更成功地探索出數量性狀的遺傳結構方式。另外也建構二種條件主效基因指標(CMGIs)以探索數量性狀與標識基因的遺傳相關訊息。透過模擬研究以評估二種新主效基因指標與二種條件主效基因指標之行為表現。Association studies, based on either population data or familial data, have been widely applied to mapping of genes for complex disease. Karlin (1979) proposed a major gene index (MGI) for exploring the inheritance mode for quantitative traits using nuclear familial data. However, the index may lead to spurious results due to the inappropriate selection of a power transformation parameter and the low heritability of a trait. In order to resolve this problem, in this thesis, we use parent-offspring triad data to construct two new MGIs that can more successfully explore the mode of inheritance for quantitative traits. In addition, we also construct two conditional major gene indices (CMGIs) to explore the genetic association information between a quantitative trait and a marker. Simulations are conducted to evaluate the performance of the two new MGIs and the two CMGIs.誌謝..... ...............................................i要..... ..............................................iibstract. .............................................iii目錄... ..............................................iv目錄... ...............................................v一章 緒論....... ......................................1一節 研究背景.........................................1二節 研究目的.........................................4二章 文獻回顧.........................................5一節 探索式資料分析...................................5二節 主效基因指標.....................................8三章 研究方法........................................15一節 數量性狀的主效基因之指標探索....................15二節 數量性狀的潛在遺傳模式之指標探索................21三節 數量性狀與標識基因相關性之指標探索..............24四章 模擬研究........................................39一節 模擬步驟與設定...... ............................39二節 三種主效基因指標之行為表現......................43三節 條件主效基因指標之行為表現............ .........53五章 結果與討論......................................57考文獻...............................................60錄...................................................63錄I 主效基因指標MGI_mp(alpha)在隨機交配且主效基因模式中隱性、可累加、顯性模式下之推導...........................63錄II 主效基因指標MGI_mp(alpha)在隨機交配且多微效基因常態模式之推導...............................................70錄III 主效基因指標MGI_max(alpha)在隨機交配且主效基因模式中隱性、可累加、顯性模式下之推導.........................74錄IV 主效基因指標MGI_min(alpha)在隨機交配且主效基因模式中隱性、可累加、顯性模式下之推導.........................79錄V 條件主效基因指標CMGI_max與CMGI_min在隨機交配且主效基因模式中隱性、可累加、顯性模式下之推導...................84application/pdf613736 bytesapplication/pdfen-US相關條件主效基因指標探索式資料分析主效基因指標associationconditional major gene indexexploratory data analysismajor gene indexthesishttp://ntur.lib.ntu.edu.tw/bitstream/246246/180791/1/ntu-98-R96842002-1.pdf