中心館藏網址 http://tulips.ntu.edu.tw/record=b2219621*cht

[ 摘要 ]
人類白血球抗原(HLA)是目前已知的功能基因中最具多態性的基因群。因為HLA基因高度的多態性，可藉由此基因多態性的分析結果，再佐以文化、考古及語言學等證據，以了解族群間的遺傳類緣關係，並探討與重建族群的遷徙與起源。 本文使用DNA定序法(SBT)，分析台灣九族原住民（阿美族、泰雅族、布農族、排灣族、卑南族、魯凱族、賽夏族、鄒族與雅美族）及台灣漢人的HLA class Ⅰ基因群中HLA-B基因。等位基因頻率及單倍體(HLA-A-B)頻率採用最大相似值法計算得知，再由等位基因頻率計算出遺傳距離，進而建立種系發生樹(phylogenetic tree)。 研究結果顯示，台灣原住民的等位基因數目少，等位基因頻率集中於少數的等位基因型。相對於台灣漢人而言，台灣九族原住民是同質性較高的族群。台灣漢人與台灣原住民不論在等位基因型，或等位基因頻率分佈上皆有差異。台灣原住民的HLA-B基因集中於B*1301、B*3901、B*4001、B*4002、B*4801、B*5502型，除了雅美族、卑南族及台灣漢人外，此六種基因型頻率總和皆超過70﹪，而雅美族及台灣漢人總和小於40﹪。遺傳距離的分析同樣顯示出雅美族與其他族群的遺傳關係較遠，以及台灣漢人與台灣原住民九族在HLA基因遺傳上的差異。 結合class ⅠHLA-A、-B與class Ⅱ HLA-DPB1、-DRB1、-DRB3/4/5做比較可以發現的共同處有：(1)賽夏與泰雅可能為同一起源；布農與魯凱也可能為同一起源；(2)雅美族可能與其他台灣原住民的起源不同。 未來可以此研究的結果為基礎，與其他東南亞及菲律賓等地的南島語族族群，及南中國大陸的少數民族及太平洋上的各族群之遺傳資料相比對，以釐清台灣原住民的起源與擴散問題，並期能更進一步能將此結果應用於了解整個南島語族的起源與擴散。

[ 英文摘要 ]
The polygenic HLA (human leukocyte antigen) gene complex is the most polymorphic cluster of functional genes known. The high polymorphism of HLA genes makes these functional genes ideal genetic markers for studying inter-relationships among various human populations. Combing the results of HLA polymorphism with evidences from socio-cultural, archaeological and linguistic studies, we may understand better the origins and dispersal of human populations. In this study we have used sequence-based typing (SBT) to analyze the degree of polymorphism of classⅠ HLA-B gene in the nine Taiwan aboriginal tribes (Amis, Atayal, Bunun, Paiwan, Puyuma, Rukai, Saisiat, Tsou, and Yami) and Taiwan Han Chinese. The allele frequencies of each population are estimated by a maximum-likelihood method and used to calculate genetic distances between pairwise populations according to Nei’s formula. Phylogenetic tree is then constructed from these genetic distances. The results show limited genetic diversity of Taiwan aborigines. The distributions of allele frequencies of Taiwan aborigines versus Han Chinese are different. All the Taiwan aboriginal tribes have a high percentage of B*1301, B*3901, B*4001, B*4002, B*4801, B*5502. Allele frequencies of HLA-B in Yami and Taiwn Han Chinese are different from those in the other populations. The total frequencies of these six alleles are more than 70﹪in all tribes except Yami, Puyuma and Taiwan Han Chinese. The results of allele frequencies and genetic distances also indicate that Yami and Taiwan Han Chinese are more different from the other populations. Phylogentic trees constructed from both class Ⅰ HLA-A,-B and class Ⅱ HLA-DPB1, -DRB1, -DRB3/4/5, show that （1）the Atayal and Saisiat, as well as Rukai and Bunun, probably are monophylic;（2）the Yami tribe seem to be very different from the other aboriginal tribes. In the future, when there are more genetic data from populations in the Philippines and Southeast Asia, South mainland China and Pacificregions, we may understand much more about the origins and dispersal of Taiwan aborigines in particular, and the Austronesians in general.