遗传 ›› 2012, Vol. 34 ›› Issue (11): 1351-1364.doi: 10.3724/SP.J.1005.2012.01351
杨昭庆, 禇嘉祐
收稿日期:
2012-10-26
修回日期:
2012-11-02
出版日期:
2012-11-20
发布日期:
2012-11-25
通讯作者:
褚嘉祐
E-mail:chujy@imbcams.com.cn
基金资助:
国家高技术研究发展计划(863)项目(编号:2012AA021802)和国家自然科学基金面上项目(编号:30971578)资助
YANG Zhao-Qing, CHU Jia-You
Received:
2012-10-26
Revised:
2012-11-02
Online:
2012-11-20
Published:
2012-11-25
Contact:
Jiayou Chu
E-mail:chujy@imbcams.com.cn
摘要: 人类遗传多样性表现为世界各种族、民族和个体间存在的基因组差异, 是探讨人类进化与迁徙、环境与遗传背景相互作用、疾病与健康影响因素的主要资源和工具。中国具有世界1/5的人口, 有56个民族和丰富的遗传多样性资源。经过几十年的努力, 中国人类遗传多样性研究已积累了丰富的资料, 部分成果已经达到国际先进水平。文章重点论述了近年来形态学标记、生化及免疫学标记、DNA遗传标记在我国人类遗传多样性研究中的应用, 线粒体DNA、Y染色体DNA和HLA标记在中国不同民族源流和相互关系、东亚现代人起源和迁移等研究中的应用, 以及我国在中华民族遗传资源保存和利用、疾病易感基因和环境适应相关基因的鉴定及全基因组关联分析和第二代测序技术的应用、中国人基因组结构研究等方面取得的重要成果和进展。
杨昭庆,褚嘉祐. 中国人类遗传多样性研究进展[J]. 遗传, 2012, 34(11): 1351-1364.
YANG Zhao-Qing, CHU Jia-You. The research progress of human genetic diversity in China[J]. HEREDITAS, 2012, 34(11): 1351-1364.
[1] 张振标. 现代中国人体质特征及其类型的分析. 人类学学报, 1988, 7(4): 314-322.[2] 胡兴宇, 汪澜, 黎彦才. 中国33个少数民族体质特征类型的研究. 解剖学杂志, 1993, 16(1): 71-73.[3] 李实喆, 毛钟荣, 徐玖瑾, 崔梅影, 王永发, 陈良忠, 袁义达, 李绍武, 杜若甫. 中国十一个少数民族的皮纹研究 Ⅰ. 指纹. 人类学学报, 1984, 3(1): 37-42.[4] 张海国, 丁明, 焦云萍, 汪宪平, 颜中, 金刚, 孟秀莲, 白崇显, 陆振虞, 陈仁彪. 中国人肤纹研究——Ⅲ. 中国52个民族的肤纹聚类. 遗传学报, 1998, 25(5): 381-391.[5] 党洁, 霍正浩, 彭亮, 陈银涛, 焦海燕, 陆宏, 钟慧军, 赵巍. 精神分裂症患者皮纹a-b嵴线数波动性不对称的研究. 人类学学报, 2007, 26(1): 64-69.[6] 金力, 禇嘉祐. 中华民族遗传多样性研究. 上海. 上海科学技术出版社, 2006.[7] 陈稚勇, 赵桐茂, 张工梁. 中国人ABO血型分布. 遗传, 1982, 4(2): 4-7.[8] 杜若甫, 肖春杰, Cavalli-Sforza LL. 用38个基因座的基因频率计算中国人群间遗传距离. 中国科学C辑, 1998, 28(1): 83-89.[9] 赵桐茂, 张工梁, 朱永明, 郑素琴, 顾文娟, 陈琦, 章霞, 刘鼎元. 中国人免疫球蛋白同种异型的研究: 中华民族起源的一个假说. 遗传学报, 1991, 18(2): 97-108.[10] 潘犁, 刘祖洞. 中国人十四个群体中Gm和Km因子的分布. 复旦学报 (自然科学版), 1988, 27(4): 382-388.[11] 袁飒英, 蒋伟宏, 陆嫣, 费虹明, 陈仁彪. 我国汉族和彝族rRNA基因多态性的研究. 遗传学报, 1994, 21(3): 173-178.[12] 王晓玲, 范中杰, 黄建凤, 宿少勇, 赵建功, 顾东风. PON基因簇潜在功能多态位点与冠心病的关联研究. 遗传学报, 2005, 32(7): 675-681.[13] 况少青, 王建民, 黄薇 张宇舟, 陆林, 陈竺, 金力. 应用多重PCR进行微卫星荧光标记-半自动基因组扫描. 中华医学遗传学杂志, 1998, 15(2): 104-107.[14] 袁文涛, 徐红岩, 赵进英, 丁伟, 江宏铨, 顾鸣敏, 薛京伦, 陈家伦, 方福德, 陈竺, 金力, 黄薇. 微卫星位点在基因组扫描中的信息表现. 中华医学遗传学杂志, 2000, 17(2): 65-71.[15] Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, Chu ZT, Yang ZQ, Lin KQ, Li P, Wu M, Geng ZC, Tan CC, Du RF, Jin L. Genetic relationship of populations in China. Proc Natl Acad Sci USA, 1998, 95(20): 11763-11768.[16] 班贵宏, 褚嘉祐, 许绍斌, 杨昭庆, 钱亚屏, 俞建昆, 纳剑波, 刘晓娟, 张思仲. MICA基因微卫星多态在中国13个群体中的分布. 遗传学报, 2001, 28(12): 1085-1092.[17] 俞建昆, 褚嘉祐, 钱亚屏, 孙浩, 史磊, 史荔, 初正韬, 杨昭庆, 林克勤, 陶玉芬, 黄薇, 金力. 应用30个常染色体STR位点研究中国6个民族群体的遗传关系. 遗传学报, 2001, 28(8): 699-706.[18] 童大跃, 孙宏钰, 伍新尧, 陆惠玲, 李建金, 陈丽娴. 中国南方汉族人群9个STR基因座多态性分析. 中山大学学报 (医学科学版), 2009, 30(4): 400-403.[19] 李莉, 赵书民, 张素华, 李成涛, 柳燕, 林源, 刘俊宏. X染色体上16个STR基因座的分型检测和多态性分析. 法医学杂志, 2012, 28(1): 36-40, 43.[20] 刘烜, 单可人, 齐晓岚, 何燕, 赵艳, 吴昌学, 李毅, 褚迅, 任锡麟. 贵州布依族、仡佬族、仫佬族、毛南族、壮族Y-SNP的初步研究. 遗传, 2006, 28(11): 1350-1354.[21] 王瑞恒, 刘利民, 赵金玲. 我国3个民族13个SNPs位点多态性及遗传学关系的比较. 遗传, 2009, 31(3): 273-279.[22] Abdulla MA, Ahmed I, Assawamakin A, Bhak J, Brahmachari SK, Calacal GC, Chaurasia A, Chen CH, Chen J, Chen YT, Chu J, Cutiongco-de la Paz EM, De Ungria MCA, Delfin FC, Edo J, Fuchareon S, Ghang H, Gojobori T, Han J, Ho SF, Hoh BP, Huang W, Inoko H, Jha P, Jinam TA, Jin L, Jung J, Zilfalil BA. Mapping human genetic diversity in Asia. Science, 2009, 326(5959): 1541-1545.[23] Xu SH, Yin XY, Li SL, Jin WF, Lou HY, Yang L, Gong XH, Wang HY, Shen YP, Pan XD, He YG, Yang YJ, Wang Y, Fu WQ, An Y, Wang JC, Tan JZ, Qian J, Chen XL, Zhang X, Sun YF, Wu BL, Jin L. Genomic dissection of population substructure of Han Chinese and its implication in association studies. Am J Hum Genet, 2009, 85(6): 762-774.[24] Chen JM, Zheng HF, Bei JX, Sun LD, Jia WH, Li T, Zhang FR, Seielstad M, Zeng YX, Zhang XJ, Liu JJ. Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am J Hum Genet, 2009, 85(6): 775-785.[25] Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. Genotype, haplotype and copy-number variation in worldwide human populations. Nature, 2008, 451(7181): 998-1003.[26] 杜仁骞, 金力, 张锋. 基因组拷贝数变异及其突变机理与人类疾病. 遗传, 2011, 33(8): 857-869.[27] Lou HY, Li SL, Yang YJ, Kang LL, Zhang X, Jin WF, Wu BL, Jin L, Xu SH. A map of copy number variations in Chinese populations. PLoS One, 2011, 6(11): e27341.[28] Sheng HH, Zeng AP, Zhu WX, Zhu RF, LI HM, Zhu ZD, Qin Y, Jin W, Liu Y, Du YL, Sun J, Xiao HS. Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population. Acta Pharmacol Sin., 2007, 28(2): 279-286.[29] Yang TL, Guo Y, Li SM, Li SK, Tian Q, Liu YJ, Deng HW. Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations. Int J Obes (Lond), 2012, doi: 10.1038/ijo.2012.31.[30] 陈仁彪, 赵桐茂, 叶根耀, 裴冀, 史秉璋, 苏炳华. 中国大陆HLA多态性联合报告. 现代免疫学, 1987, 7(6): 321-324.[31] 陈仁彪, 叶根跃, 庚镇城, 王增慧, 孔繁华, 田丁, 包丕云, 刘若英, 刘杰, 宋芳吉, 范丽安, 张工梁, 郭实士, 徐林敏, 徐星培, 程定珍, 赵修竹. 我国大陆主要少数民族HLA多态性聚类分析和频率分布对中华民族起源的启示. 遗传学报, 1993, 20(5): 389-393.[32] 吴国光, 邓志辉, 高素青, 程良红, 金士正, 周丹, 李桢, 邹红岩, 张旋, 魏天莉, 程曦, 王大明. 6965名汉族骨髓供者HLA多态性分析. 中华血液学杂志, 2004, 25(8): 473-477.[33] Yao Y, Shi L, Tao Y, Kulski JK, Lin K, Huang X, Xiang H, Chu J. Distinct HLA allele and haplotype distributions in four ethnic groups of China. Tissue Antigens, 2012, 80(5): 452-461.[34] Shi L, Ogata S, Yu JK, Ohashi J, Yu L, Shi L, Sun H, Lin KQ, Huang XQ, Matsushita M, Horai S, Muramatsu M, Chu JY, Tokunaga K. Distribution of HLA alleles and haplotypes in Jinuo and Wa populations in Southwest China. Hum Immunol, 2008, 69(1): 58-65.[35] Shen CM, Zhu BF, Deng YJ, Ye SH, Yan JW, Yang G, Wang HD, Qin HX, Huang QZ, Zhang JJ. Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group. PLoS One, 2010, 5(11): e13458.[36] 高路, 董永利, 郝肇菁, 王欧, 杨智丽, 苏艳华, 郑冰蓉, 昝瑞光, 肖春杰. 云南16个少数民族群体的线粒体DNA多态性研究. 遗传学报, 2005, 32(2): 118-123.[37] 李彬彬, 钟复光, 易红生, 王先然, 李良芳, 王丽兰, 吴立甫. 贵州四个民族人群线粒体DNA编码区的多态性. 中国比较医学杂志, 2010, 20(3): 8-11.[38] 木耶塞尔·伊斯马依力, 古丽娜·艾山, 马合木提·哈力克. 新疆8个地域维吾尔族群线粒体DNAV-区9 bp缺失频率与Y-染色体DYS287位点多态性研究. 中山大学学报 (自然科学版), 2011, 50(4): 100-105.[39] 贺林, 严明, 王世浚. 中国汉族人线粒体DNA RFLP的初步研究. 科学通报, 1987, (23): 1826-1828.[40] Yao YG, Nie L, Harpending H, Fu YX, Yuan ZG, Zhang YP. Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol, 2002, 118(1): 63-76.[41] Li H, Cai XY, Winograd-Cort ER, Wen B, Cheng X, Qin ZD, Liu WH, Liu YF, Pan SL, Qian J, Tan CC, Jin L. Mitochondrial DNA diversity and population differentiation in southern East Asia. Am J Phys Anthropol, 2007, 134(4): 481-488.[42] Peng MS, He JD, Liu HX, Zhang YP. Tracing the legacy of the early Hainan Islanders--a perspective from mitochondrial DNA. BMC Evol Biol, 2011, 11(1): 46.[43] Zhao M, Kong QP, Wang HW, Peng MS, Xie XD, Wang WZ, Jiayang, Duan JG, Cai MC, Zhao SN, Cidanpingcuo, Tu YQ, Wu SF, Yao YG, Bandelt HJ, Zhang YP. Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proc Natl Acad Sci USA, 2009, 106(50): 21230-21235.[44] 许丽萍, 徐玖瑾, 朱苏玲, 包维东, 杜若甫. 中国10个人群中Y染色体Alu序列的多态分布. 科学通报, 1998, 43(8): 843-846.[45] 柯越海, 宿兵, 肖君华, 陈华, 黄薇, 陈竺, 褚嘉佑, 谈家祯, 金力, 卢大儒. Y染色体单倍型在中国汉族人群中的多态性分布与中国人群的起源及迁移. 中国科学 (C辑: 生命科学), 2000, 30(6): 614-620.[46] Zheng LH, Sun HM, Wang JW, Li SL, Bai J, Jin Y, Yu Y, Chen F, Jin L, Fu SB. Y chromosomal STR polymorphism in northern Chinese populations. Biol Res, 2009, 42(4): 497-504.[47] Shi H, Dong YL, Wen B, Xiao CJ, Underhill PA, Shen PD, Chakraborty R, Jin L, Su B. Y-chromosome evidence of southern origin of the East Asian-specific haplogroup O3-M122. Am J Hum Genet, 2005, 77(3): 408-419.[48] Shi H, Zhong H, Peng Y, Dong YL, Qi XB, Zhang F, Liu LF, Tan SJ, Ma RZ, Xiao CJ, Wells RS, Jin L, Su B. Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations. BMC Biol, 2008, 6(1): 45.[49] Zhong H, Shi H, Qi XB, Duan ZY, Tan PP, Jin L, Su B, Ma RZ. Extended Y chromosome investigation suggests postglacial migrations of modern humans into East Asia via the northern route. Mol Biol Evol, 2011, 28(1): 717-727.[50] 黄小琴, 褚嘉祐, 林克勤, 陶玉芬, 俞建昆, 史磊, 史荔, 于亮, 石铁流. 建立不同民族永生细胞株质量控制方法的探讨. 中国优生与遗传杂志, 2005, 13(9): 10-13.[51] 褚嘉祐, 徐玖瑾, 傅松滨, 林克勤, 朱苏玲, 黄小琴, 陶玉芬, 薛雅丽, 孙艳阳, 杨昭庆, 钱亚屏, 李璞. 中华民族永生细胞库的建立. 国际遗传学杂志, 2008, 31(4): 241-247, 301.[52] Zhang XJ, Huang W, Yang S, Sun LD, Zhang FY, Zhu QX, Zhang FR, Zhang C, Du WH, Pu XM, Li H, Xiao FL, Wang ZX, Cui Y, Hao F, Zheng J, Yang XQ, Cheng H, He CD, Liu XM, Xu LM, Zheng HF, Zhang SM, Zhang JZ, Wang HY, Cheng YL, Ji BH, Fang QY, Li YZ, Zhou FS, Han JW, Quan C, Chen B, Liu JL, Lin D, Fan L, Zhang AP, Liu SX, Yang CJ, Wang PG, Zhou WM, Lin GS, Wu WD, Fan X, Gao M, Yang BQ, Lu WS, Zhang Z, Zhu KJ, Shen SK, Li M, Zhang XY, Cao TT, Ren W, Zhang X, He J, Tang XF, Lu S, Yang JQ, Zhang L, Wang DN, Yuan F, Yin XY, Huang HJ, Wang HF, Lin XY, Liu JJ. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet, 2009, 41(2): 205-210.[53] Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH, Zhu QX, Zhou HS, Ellinghaus E, Zhang FR, Pu XM, Yang XQ, Zhang JZ, Xu AE, Wu RN, Xu LM, Peng L, Helms CA, Ren YQ, Zhang C, Zhang SM, Nair RP, Wang HY, Lin GS, Stuart PE, Fan X, Chen G, Tejasvi T, Li P, Zhu J, Li ZM, Ge HM, Weichenthal M, Ye WZ, Shen SK, Yang BQ, Sun YY, Li SS, Lin Y, Jiang JH, Li CT, Chen RX, Cheng J, Jiang X, Zhang P, Song WM, Tang J, Zhang HQ, Sun L, Cui J, Zhang LJ, Tang B, Huang F, Qin Q, Pei XP, Zhou AM, Shao LM, Liu JL, Zhang FY, Du WD, Franke A, Bowcock AM, Elder JT, Liu JJ, Yang S, Zhang XJ. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet, 2010, 42(11): 1005-1009.[54] Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z, Xu JH, Cai ZM, Huang W, Zhao GP, Xie HF, Fang H, Lu QJ, Li XP, Pan YF, Deng DQ, Zeng FQ, Ye ZZ, Zhang XY, Wang QW, Hao F, Ma L, Zuo XB, Zhou FS, Du WH, Cheng YL, Yang JQ, Shen SK, Li J, Sheng YJ, Zuo XX, Zhu WF, Gao F, Zhang PL, Guo Q, Li B, Gao M, Xiao FL, Quan C, Zhang C, Zhang Z, Zhu KJ, Li Y, Hu DY, Lu WS, Huang JL, Liu SX, Li H, Ren YQ, Wang ZX, Yang CJ, Wang PG, Zhou WM, Lv YM, Zhang AP, Zhang SQ, Lin D, Low HQ, Shen M, Zhai ZF, Wang Y, Zhang FY, Yang S, Liu JJ, Zhang XJ. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet, 2009, 41(11): 1234-1237.[55] Chu X, Pan CM, Zhao SX, Liang J, Gao GQ, Zhang XM, Yuan GY, Li CG, Xue LQ, Shen M, Liu W, Xie F, Yang SY, Wang HF, Shi JY, Sun WW, Du WH, Zuo CL, Shi JX, Liu BL, Guo CC, Zhan M, Gu ZH, Zhang XN, Sun F, Wang ZQ, Song ZY, Zou CY, Sun WH, Guo T, Cao HM, Ma JH, Han B, Li P, Jiang H, Huang QH, Liang L, Liu LB, Chen G, Su Q, Peng YD, Zhao JJ, Ning G, Chen Z, Chen JL, Chen SJ, Huang W, Song HD. A genome-wide association study identifies two new risk loci for Graves' disease. Nat Genet, 2011, 43(9): 897-901.[56] Shi YY, Li ZQ, Xu Q, Wang T, Li T, Shen JW, Zhang FY, Chen JH, Zhou GQ, Ji WD, Li BJ, Xu YF, Liu DT, Wang P, Yang P, Liu BX, Sun WS, Wan CL, Qin SY, He G, Steinberg S, Cichon S, Werge T, Sigurdsson E, Tosato S, Palotie A, Nöthen MM, Rietschel M, Ophoff RA, Collier DA, Rujescu D, Clair DS, Stefansson H, Stefansson K, Ji J, Wang QZ, Li WJ, Zheng LQ, Zhang HR, Feng GY, He L. Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet, 2011, 43(12): 1224-1227.[57] Yu XQ, Li M, Zhang HQ, Low HQ, Wei X, Wang JQ, Sun LD, Sim KS, Li Y, Foo JN, Wang W, Li ZJ, Yin XY, Tang XQ, Fan L, Chen J, Li RS, Wan JX, Liu ZS, Lou TQ, Zhu L, Huang XJ, Zhang XJ, Liu ZH, Liu JJ. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. Nat Genet, 2012, 44(2): 178-182.[58] Wu C, Kraft P, Zhai K, Chang J, Wang ZM, Li Y, Hu Z, He ZB, Jia WH, Abnet CC, Liang LM, Hu N, Miao XP, Zhou YF, Liu ZH, Zhan QM, Liu Y, Qiao Y, Jin GF, Guo CH, Lu CH, Yang HJ, Fu JH, Yu DK, Freedman ND, Ding T, Tan W, Goldstein AM, Wu TC, Shen HB, Ke Y, Zeng YX, Chanock SJ, Taylor PR, Lin DX. Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. Nat Genet, 2012, 44(10): 1090-1097.[59] Yan XJ, Xu J, Gu ZH, Pan CM, Lu G, Shen Y, Shi JY, Zhu YM, Tang L, Zhang XW, Liang WX, Mi JQ, Song HD, Li KQ, Chen Z, Chen SJ. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet, 2011, 43(4): 309-315.[60] Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet, 2011, 43(12): 1252-1255.[61] Gao JJ, Zhang FC, Guo TW, Gao XC, Duan SW, Wang HY, Zheng ZJ, Huang TZ, Feng GY, St Clair D, He L. Distribution of apolipoprotein E allele frequencies of the Han Chinese in an iodine-deficient mountainous area. Ann Hum Biol, 2004, 31(5): 578-585.[62] Zhang DF, Pang ZC, Li SX, Thomassen M, Wang SJ, Jiang WJ, Hjelmborg J v B, Kruse TA, Kyvik KO, Christensen K, Tan QH. High-resolution genome-wide linkage mapping identifies susceptibility loci for BMI in the Chinese population. Obesity (Silver Spring), 2012, 20(4): 830-833.[63] Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, Pool JE, Xu X, Jiang H, Vinckenbosch N, Korneliussen TS, Zheng H, Liu T, He W, Li K, Luo R, Nie X, Wu H, Zhao M, Cao H, Zou J, Shan Y, Li S, Yang Q, Asan, Ni P, Tian G, Xu J, Liu X, Jiang T, Wu R, Zhou G, Tang M, Qin J, Wang T, Feng S, Li G, Huasang, Luosang J, Wang W, Chen F, Wang Y, Zheng X, Li Z, Bianba Z, Yang G, Wang X, Tang S, Gao G, Chen Y, Luo Z, Gusang L, Cao Z, Zhang Q, Ouyang W, Ren X, Liang H, Huang Y, Li J, Bolund L, Kristiansen K, Li Y, Zhang Y, Zhang X, Li R, Yang H, Nielsen R, Wang J. Sequencing of 50 human exomes reveals adaptation to high altitude. Science, 2010, 329(5987): 75-78.[64] Peng Y, Yang ZH, Zhang H, Cui CY, Qi XB, Luo X, Tao X, Wu TY, Ouzhuluobu, Basang, Ciwangsangbu, Danzengduojie, Chen H, Shi H, Su B. Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. Mol Biol Evol, 2011, 28(2): 1075-1081.[65] Xu SH, Li SL, Yang YJ, Tan JZ, Lou HY, Jin WF, Yang L, Pan X,D Wang JC, Shen YP, Wu BL, Wang HY, Jin L. A genome-wide search for signals of high-altitude adaptation in Tibetans. Mol Biol Evol, 2011, 28(2): 1003-1011.[66] Shi H, Tan SJ, Zhong H, Hu WW, Levine A, Xiao CJ, Peng Y, Qi XB, Shou WH, Ma RL, Li Y, Su B, Lu X. Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia. Am J Hum Genet, 2009, 84(4): 534-541.[67] Peng Y, Shi H, Qi XB, Xiao CJ, Zhong H, Ma RL, Su B. The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history. BMC Evol Biol, 2010, 10: 15, doi: 10.1186/1471-2148-10-15.[68] Wang J, Wang W, Li RQ, Li YR, Tian G, Goodman L, Fan W, Zhang JQ, Li J, Zhang JB, Guo YR, Feng BX, Li H, Lu Y, Fang XD, Liang HQ, Du ZL, Li D, Zhao YQ, Hu YJ, Yang ZZ, Zheng HC, Hellmann I, Inouye M, Pool J, Yi X, Zhao J, Duan JJ, Zhou Y, Qin JJ, Ma LJ, Li GQ, Yang ZT, Zhang GJ, Yang B, Yu C, Liang F, Li WJ, Li SC, Ni PX, Ruan J, Li QB, Zhu HM, Liu DY, Lu ZK, Li N, Guo GW, Zhang JG, Ye J, Fang L, Hao Q, Chen Q, Liang Y, Su YY, San A, Ping C, Yang S, Chen F, Li L, Zhou K, Zheng HK, Ren YY, Yang L, Gao Y, Yang G, Li Z, Feng XL, Kristiansen K, Wong GKS, Nielsen R, Durbin R, Bolund L, Zhang XQ, Li SG, Yang HM, Wang J. The diploid genome sequence of an Asian individual. Nature, 2008, 456(7218): 60-65.[69] Li RQ, Li YR, Zheng HC, Luo RB, Zhu HM, Li QB, Qian WB, Ren YY, Tian G, Li JX, Zhou GY, Zhu X, Wu HD, Qin JJ, Jin X, Li DF, Cao HZ, Hu XD, Blanche H, Cann H, Zhang XQ, Li SG, Bolund L, Kristiansen K, Yang HM, Wang J, Wang J. Building the sequence map of the human pan-genome. Nat Biotechnol, 2010, 28(1): 57-63.[70] Toung JM, Morley M, Li M, Cheung VG. RNA-sequence analysis of human B-cells. Genome Res, 2011, 21(6): 991-998.[71] Tan XL, Moyer AM, Fridley BL, Schaid DJ, Niu N, Batzler AJ, Jenkins GD, Abo RP, Li L, Cunningham JM, Sun Z, Yang P, Wang L. Genetic variation predicting cisplatin cytotoxicity associated with overall survival in lung cancer patients receiving platinum-based chemotherapy. Clin Cancer Res, 2011, 17(17): 5801-5811.[72] Spielman RS, Bastone LA, Burdick JT, Morley M, Ewens WJ, Cheung VG. Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet, 2007, 39(2): 226-231. |
[1] | 梁承志. 从作物基因组分析到整合组学知识库建设[J]. 遗传, 2019, 41(9): 875-882. |
[2] | 刘永鑫,秦媛,郭晓璇,白洋. 微生物组数据分析方法与应用[J]. 遗传, 2019, 41(9): 845-862. |
[3] | 史晓黎,何伊琳,凌宏清. 小麦A基因组测序与进化研究进展[J]. 遗传, 2019, 41(9): 836-844. |
[4] | 张秀泉,王建,熊符,吕伟标,周远青,杨少民,张玉婷,田小燕,连蔚,徐湘民. 染色体10q24.31片段重复导致先天性缺指/缺趾畸形的一个家系致病机理分析[J]. 遗传, 2019, 41(8): 716-724. |
[5] | 梁文权,侯豫,赵存友. 精神分裂症相关单核苷酸多态性调控microRNA功能研究进展[J]. 遗传, 2019, 41(8): 677-685. |
[6] | 何俊,Fernando B. Lopes,吴晓林. 动物基因组选配方法与应用[J]. 遗传, 2019, 41(6): 486-493. |
[7] | 王珏, 黄娟, 许蕊. 利用CRISPR/Cas9和piggyBac实现果蝇基因组无缝编辑[J]. 遗传, 2019, 41(5): 422-429. |
[8] | 刘刚,孙飞舟,朱芳贤,冯海永,韩旭. 连续性纯合片段在畜禽基因组研究中的应用[J]. 遗传, 2019, 41(4): 304-317. |
[9] | 赵志达,张莉. 基因组选择在绵羊育种中的应用[J]. 遗传, 2019, 41(4): 293-303. |
[10] | 宁椿游,何梦楠,唐茜子,朱庆,李明洲,李地艳. 基于Hi-C技术哺乳动物三维基因组研究进展[J]. 遗传, 2019, 41(3): 215-233. |
[11] | 匡卫民, 于黎. 基因组时代线粒体基因组拼装策略及软件应用现状[J]. 遗传, 2019, 41(11): 979-993. |
[12] | 王凤红,张磊,李晓凯,范一星,乔贤,龚高,严晓春,张令天,王志英,王瑞军,刘志红,王志新,何利兵,张燕军,李金泉,赵艳红,苏蕊. 山羊基因组研究进展[J]. 遗传, 2019, 41(10): 928-938. |
[13] | 姚雅馨,喇永富,狄冉,刘秋月,胡文萍,王翔宇,储明星. 不同单细胞全基因组扩增方法的比较及MALBAC在辅助生殖中的应用[J]. 遗传, 2018, 40(8): 620-631. |
[14] | 邓雯文,龙梅,杨盛智,邹立扣. β-内酰胺酶耐药基因blaOKP进化及其侧翼序列特征研究[J]. 遗传, 2018, 40(7): 585-592. |
[15] | 梁彩娇, 孟繁梅, 艾云灿. 基于CRISPR/Cas系统的噬菌体基因组编辑[J]. 遗传, 2018, 40(5): 378-389. |
阅读次数 | ||||||
全文 |
|
|||||
摘要 |
|
|||||
www.chinagene.cn
备案号:京ICP备09063187号-4
总访问:,今日访问:,当前在线: