HLA-A、-B、-DRB1对偶基因与单套型频率估计：以慈

【外文题名】Estimations of allele and haplotype frequencies of the HLA-A, HLA-B, and HLA-DRB1 loci based on the marrow donors of TCTMDR.

【作者】 林雅惠

【关键词】 HLA alleles Haplotypes Taiwanese HLA 对偶基因 单套型 台湾人

【导师姓名】温淑惠

【学位名称】硕士

【学位年度】2009

【学位授予单位】暂无

【所属分类】TU241,TS251.94,Q343.1,O152

【录入时间】2009-01-01

【全文挂接】 读秀挂接

【摘要】資料的樣本有77位(0.16 %)，所以同時提供雙親資料且父母同族的數量則有61位(0.13 %)。本研究中我們估計台灣四個族群的HLA-A、-B、-DRB1對偶基因與3-locus單套型頻率。我們發現在台灣族群中共有51種HLA-A、121種-B、53種-DRB1之對偶基因。閩南、客家與外省最常見的前兩名HLA-A對偶基因分別為A*1101 (23.93 %、24.47 %、21.83 %)與A*2402(15.95 %、16.54 %、16.14 %)兩種。但A*2402(35.41 %)是原住民族群中最常見的HLA-A對偶基因，次之才為A*1101(15.88 %)；而B*4001(18.67 %、17.40 %、15.20 %)與B*4601(13.59 %、15.8 %、13.33 %)則皆為閩南、客家與外省族群最常見HLA-B的對偶基因；原住民族群較常見的兩名HLA-B對偶基因則分別為B*4001 (25.11 %)與B*4801(12.23 %)。閩南與客家共同常見的HLA-DRB1對偶基因為DRB1*0901 (14.94 %、15.72 %)與 DRB1*0301(11.37 %、11.19 %)；外省族群最常見的HLA-DRB1對偶基因與閩南、客家相同(15.66 %)，第二為DRB1*1202，佔10.23%；DRB1*1101(11.80 %)與DRB1*1454(11.59 %)則是原住民族群中較常見的HLA-DRB1對偶基因。採EM(Expectation-Maximum)法估計3-locus單套型頻率，結果顯示頻率大於0.05 %的HLA A-B-DRB1單套型至多1294種。A*3303-B*5801-DRB1*0301 (>5.658 %)與 A*0207-B*4601-DRB1*0901(>4.282 %)這兩種單套型在閩南、客家、外省族群中最為常見；而A*3401-B*5601-DRB1*1502 (5.791 %)為原住民最常見的單套型，但此單套型卻罕見於閩南與外省族群，在客家族群則觀察不到。研究結果顯示在台灣四個族群中，HLA對偶基因與單套型具有高度異質性。族群分群採用主成份分析與集群分析分析HLA-A和-B或HLA-A、-B和-DRB1對偶基因頻率，結果顯示閩南、客家與外省基因同質性較高，而原住民為一較特殊的族群。...

【外文摘要】Until 2005, a total of 56176 unrelated healthy Taiwanese individuals from the BTCSCC (Buddhist Tzu Chi Stem Cells Center) were typed for HLA-A, -B, -DRB1 at allelic resolution. The majority of donors in the BTCSCC are Taiwanese composed of four main ethnic groups, the Minnan, Hakka, Mainlander and Aborigines. A total of 46915 (83.51%) out of 56176 donors provided paternal s ethnic, 77 (0.16%) donors provided maternal s ethnic, and only 61 (0.13%) donors parents had the same ancestry. In this study, we estimated the HLA-A, -B, -DRB1 allele and 3-locus haplotype frequencies among four ethnic groups in Taiwan. We found 51 HLA-A alleles, 121 HLA-B alleles and 53 HLA-DRB1 alleles in Taiwanese population. The top two HLA-A alleles in Minnan, Hakka and Mainlander were the same (A*1101 and A*2402).A*2402 (35.41%) is the most frequent in Aborigines, however, A*1101 (15.88%) is the second frequent allele. B*4001 and B*4601 were the most frequent HLA-B alleles in Minnan, Hakka and Mainlander. Although B*4001(25.11%) were also the most frequent allele in Aborigines, but B*4801(12.23%) was the following frequent allele. The most frequent HLA-DRB1 alleles in Minnan and Hakka were DRB1*0901 (14.94% and 15.72%) and DRB1*0301(11.37% and 11.19%). The most frequent HLA-DRB1 alleles in Mainlander were DRB1*0901(15.66%) and DRB1*1202(10.23%). The most frequent HLA-DRB1 alleles in Aborigines were DRB1*1101(11.80%) and DRB1*1454 (11.59%). 3-locus haplotype frequencies estimated by the Expectation-Maximum method revealed at most 1294 HLA A-B-DRB1 haplotypes with frequencies of more than 0.05%. For Minnan, Hakka and Mainlander, A*3303-B*5801-DRB1*0301 (>5.658%) and A*0207-B*4601-DRB1*0901(>4.282%) were most frequent. A*3401-B*5601-DRB1*1502 (5.791%) was the top one haplotype in Aborigines, but it was rare in Minnan and Mainlander and not been observed in Hakka group.These results revealed high diversity of HLA alleles and haplotypes among the four ethnic groups in Taiwan. Principal component analysis and clustering analysis based on either HLA-A and -B or HLA-A, -B and -DRB1 allele frequencies suggested that Minnan, Hakka and Mainlander were more genetic homogeneous while the Aborigines is a characteristic group....