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研究生:吳芳親
研究生(外文):Fang-Chin Wu
論文名稱:Y染色體DNA短片段縱列重複性基因多型性於臺灣各族群親緣關係分析及父系鑑定案應用之研究
論文名稱(外文):Study on the genetic polymorphisms of Y chromosomal DNA short tandem repeat loci applied to analyzing the relative affinities among ethnic groups and identifying the paternal cases in Taiwan
指導教授:何錦玟
指導教授(外文):Chin-Wen Ho
學位類別:博士
校院名稱:大同大學
系所名稱:生物工程學系(所)
學門:工程學門
學類:生醫工程學類
論文出版年:2009
畢業學年度:97
語文別:中文
論文頁數:138
中文關鍵詞:阿美族DNA Y-STRYfiler基因距離河洛人父系血緣關係Y染色體
外文關鍵詞:Y chromosomeAmisDNA Y-STRYfilergenetic distanceHolopaternity relationship
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從臺灣地區十四個族群中,蒐集無血緣關係1,281位男性之口腔黏膜細胞檢體,包括河洛人、客家人、其他類(民國38年前後大陸來臺人士及其後代子孫)、阿美族、排灣族、泰雅族、布農族、太魯閣族、魯凱族、卑南族、鄒族、賽夏族、雅美族及邵族等,進行Y染色體DNA短片段縱列重複性基因(Y chromosomal short tandem repeats,DNA Y-STR)多型性研究,分析彼此間父系血緣關係,共鑑別出923組單套型別組合。
十四個族群間之DNA Y-STR 17型(Yfiler,DYS19、DYS 385a/b、DYS 389I、DYS 389II、DYS 390、DYS 391、DYS 392、DYS 393、DYS 437、DYS 438、DYS 439、DYS 448、DYS 456、DYS 458、DYS 635及Y-GATA-H4)基因距離數值0.2以下者,可獲得四個群組,群組內之父系血緣關係相當親近,群組如下:(一)河洛人、客家人及其他類。(二)排灣族及魯凱族。(三)排灣族及卑南族。(四)泰雅族與太魯閣族。
由基因血緣與地理環境相關性,原住民泰雅族、布農族、太魯閣族及鄒族之DYS389I型別分佈特別集中於13型,高達78.6 %以上,而其他族原住民則集中於12型,高達76.1 %以上。
在60件父系關係鑑定案中,發現4件DNA STR型別發生突變無法判別血緣關係時,可藉由DNA Y-STR的佐證得以確認親子關係。
We collected the 1,281 buccal swab samples for typing Y chromosome DNA and identifying paternity relationship with written informed consent from unrelated male volunteers of 14 ethnic groups residing in Taiwan. The donators included Holo, Hakka, Mainlander, Amis, Paiwan, Atayal, Bunun, Truku, Rukai, Puyuma, Tsou, Saisiyat, Yami and Thao. We got 923 DNA Y-STR haplotypes for identifying paternal affinity.
Allele frequencies for the 17 Y-specific short tandem repeats (Y-STRs) loci DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4 (AmpFℓSTR® Yfiler™ PCR Amplification Kit) were determined from 1,281 samples. The genetic distance values below 0.2, which show high genetic affinity between compared groups, have four groups: (1) Holo, Hakka and Mainlander; (2) Paiwan and Rukai; (3) Paiwan and Puyuma; (4) Atayal and Truku.
From the relation of genetic blood and geographic environment, we found the Atayal, Bunun, Truku and Tsou tribes had the high frequencies over 78.6 % of allele 13 and the Amis, Paiwan, Rukai, Puyuma, Saisiyat, Yami and Thao tribes had the high frequencies over 76.1 % of allele 12.
In 60 paternity cases, we found 4 cases happening mutations on DNA STR and used DNA Y-STR to determine the blood relation for these.
目錄
中文摘要i
英文摘要ii
法務部調查局授權書iii
目錄iv
圖目錄vii
表目錄viii
英文縮寫字義或符號意義x
壹、 前言1
一、 研究動機及目的1
二、 前人研究3
三、 臺灣族群多樣化與意義5
四、 原住民族群分析8
貳、 材料與方法11
一、 材料來源11
二、 DNA抽提12
三、 分析DNA儀器設備12
四、 分析DNA Y-STR試劑13
五、 分析DNA Y-STR試驗原理14
六、 操作步驟18
七、 品管方式19
八、 試驗完成後檢品處理19
九、 試驗數據的計算、判讀及紀錄19
十、 調查局應用DNA Y-STR案件統計30
十一、 基因數值計算方法30
參、 結果31
一、 DNA Y-STR型別單套型別組合31
二、 臺灣地區十四個族群之DNA Y-STR各基因座型別頻率分佈情形38
三、 遺傳距離58
四、 基因顯著性58
五、 Y-STR之應用59
肆、 討論66
一、 DNA Y-STR資料庫的價值66
二、 研究比較67
三、 基因血緣關係68
四、 地理環境與遺傳距離關係70
五、 父系與母系遺傳距離關係比較72
六、 與歐亞其他種族父系遺傳距離關係比較73
七、 應用DNA Y-STR所遇到之難題75
伍、 結論76
陸、 未來研究的建議78
參考文獻79
附錄90
附錄一90
附錄二109
附錄三118

圖目錄
圖一、Y染色體檢測套件AmpFℓSTR® YfilerTM Allelic Ladder 21
圖二、臺灣地區十四個族群DNA Y-STR以DAMBE及MEGA4軟體中UPGMA分析方法獲得之基因樹狀圖70
圖三、臺灣原住民地理位置分佈圖71
圖四、臺灣各族群父系(DNA Y-STR)與母系(mtDNA)遺傳距離以Neighbor-joining (NJ) tree分析方法獲得之基因樹圖72
圖五、歐亞各地33個族群DNA Y-STR 9型以DAMBE軟體中UPGMA分析方法獲得之基因樹狀圖74

表目錄
表一、臺灣各族群男性採樣件數及DNA Y-STR單套型別組合數32
表二、臺灣各族群923組DNA Y-STR單套型別組合人數分佈情形33
表三、臺灣各族群合計165組DNA Y-STR單套型別組合2人以上共有情形34
表四、臺灣地區十四個族群DYS19分佈頻率39
表五、臺灣地區十四個族群DYS385a/b分佈頻率41
表六、臺灣地區十四個族群DYS389I分佈頻率44
表七、臺灣地區十四個族群DYS389II分佈頻率45
表八、臺灣地區十四個族群DYS390分佈頻率46
表九、臺灣地區十四個族群DYS391分佈頻率47
表十、臺灣地區十四個族群DYS392分佈頻率48
表十一、臺灣地區十四個族群DYS393分佈頻率49
表十二、臺灣地區十四個族群DYS437分佈頻率50
表十三、臺灣地區十四個族群DYS438分佈頻率51
表十四、臺灣地區十四個族群DYS439分佈頻率52
表十五、臺灣地區十四個族群DYS448分佈頻率53
表十六、臺灣地區十四個族群DYS456分佈頻率54
表十七、臺灣地區十四個族群DYS458分佈頻率55
表十八、臺灣地區十四個族群DYS635分佈頻率56
表十九、臺灣地區十四個族群Y GATA H4分佈頻率57
表二十、臺灣地區十四個族群Y-STR遺傳距離對應表58
表二十一、臺灣地區十四個族群Y-STR基因頻率P值及交集之相同單套型別組合數59
表二十二、Y-STR應用情形60
表二十三、案例一 DNA STR D16S539型別矛盾之血緣關係鑑定案61
表二十四、案例二 DNA STR FGA型別矛盾之血緣關係鑑定案62
表二十五、案例三 DNA STR D2S1338型別矛盾之血緣關係鑑定案63
表二十六、案例四 DNA STR D2S1338型別矛盾之血緣關係鑑定案64
表二十七、案例五 DNA Y-STR DYS385a/b型別矛盾之血緣關係鑑定案65
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