戴政2006-07-252018-06-292006-07-252018-06-292004-07-31http://ntur.lib.ntu.edu.tw//handle/246246/4698利用三元體(父、母、一個染病孩子) 資料之標識基因是否由親代傳至染病 子代之傳遞-不傳遞訊息來建立檢定連鎖方法，已有許多被發展出來。推廣這些 方法至其它方面，諸如：多對偶基因、缺失資料、異質性、數量性狀、多標識基 因等問題，亦已有許多研究可見。雖然如此，此方面仍存有二個主要問題值得探 究：(1) 在一般化之遺傳模式下 (如顯、隱、累加、相乘模式)，影響連鎖之干擾 參數為何？ (2) 在一般化模式下，除已提出之連鎖檢定方法外，是否還有其它？ 在本論文中，將先導出三元體資料於一般化遺傳模式下之標識基因傳遞-不傳遞 資料結構，由此資料結構推得於無連鎖情形下的邊際同質與對稱性，利用這些特 性建立九種檢定連鎖統計量 (其中三種為新的方法)，並推導出於一般化遺傳模 式下對應於各統計量之干擾參數組成結構。最後，以模擬方法探討干擾參數對檢定連鎖的影響。Using the information of transmission-nontransmission of a parental marker allele to the affected child in a case-parent triad family, currently there have been many transmission linkage tests proposed for the inference of linkage between a marker and a disease-susceptibility gene. Extensions of these methods to a variety of problems such as multiple alleles, parent-missing, genetic heterogeneity and quantitative trait loci were also widely studied. However, there still remain a couple of problems that are worth studying: (1) There is not a comprehensive study that investigates all the possible transmission linkage tests under the general disease models. Therefore, it is not clear whether there still are, other than the existing ones, some statistics that are valid for the test of linkage and how they perform. (2) It is known that there are several nuisance parameters (linkage disequilibrium, marker and disease allele frequencies, penetrances of disease genes) that can interfere with the test of linkage, but it is not clear that how they jointly interfere with the test of linkage under the general disease models. Here, we distinguish three types of transmission-nontransmission data structure generated from the case-parent triad data under the general disease models. For the three types of data structure we discover twelve properties of symmetry or marginal homogeneity under the null hypothesis of no linkage. Based on these properties, a systematic class of nine transmission linkage tests under general disease models is developed. Three in it are new. The joint interference structures of the studied nuisance parameters for the respective tests are formulated. Simulations are conducted to examine the joint effect of the nuisance parameters on the test of linkage under the general situations.application/pdf102886 bytesapplication/pdfzh-TW國立臺灣大學公共衛生學院流行病學研究所遺傳模式邊際同質性對稱性傳遞inheritance modemarginal homogeneitysymmetrytransmissionreporthttp://ntur.lib.ntu.edu.tw/bitstream/246246/4698/1/922118M002011.pdf