Molecular Analyses of HLA-DRB1, -DPB1, and -DQB1 in Jing Ethnic Minority of Southwest China Jing-hai Lin, Ze-huan Liu, Feng-juan Lv, Yong-gui Fu, Xin-lan Fan, Shi-yong Li, Jian-ming Lu, Xiao-yi Liu, and An-long Xu ABSTRACT: In the present study, DNA typing for HLA-DRB1, DQB1 and DPB1 was performed using polymerase chain reaction-sequencing based typing (PCR-SBT) method in 144 random selected Jing ethnic individuals inhabiting in South China. Allele frequencies and two-locus haplotypes (DRB1-DQB1) were statisti- cally analyzed and 20 DPB1 alleles, 27 DRB1 and 20 DQB1 were detected. The most frequent DPB1 allele was DPB1*0501 with the percentage of 36.9% followed by DPB1*1301 (15.7%), DPB1*0401 (11.0%) and DPB1*020102 (9.8%). Among the 27 detected DRB1 alleles, DRB1*120201 (13.8%) was most commonly ob- served followed by DRB1*150201, *030101 and *090102 alleles with the frequencies of 9.4%, 9.1% and 8.3%, respectively. Among the 20 detected DQB1 alleles the most predominant one was DQB1*030101/0309 (19.9%). DQB1*050201 (19.1%), DQB1*0201/0202 (16.1%) and DQB1*050101 (12.3%) were also fre- quently observed in Jing population. Statistical analysis of two-locus haplotypes showed that DRB1*120201- DQB1*030101/DRB1*120201-DQB1*0309 (HF = 9.4%, D = 6.65 10 -2 ) was most predominant fol- lowed by DRB1*030101-DQB1*0201/DRB1*030101- DQB1*0202 (HF = 8.1%, D = 6.66 10 -2 ). The comparison of HLA class II allele and haplotype frequen- cies in Jing with those in other populations all over the world and a dendrogram based on the DRB1, DQB1 and DPB1 genes suggested that Jing ethnic population has an origin of Southeast Asia and is belonged to the southern group of Chinese populations. Human Immunology 64, 830 – 834 (2003). © American Society for Histocompat- ibility and Immunogenetics, 2003. Published by Elsevier Inc. KEYWORDS: HLA class II genes; allele frequencies; PCR-SBT; Jing ethnic minority; haplotype frequencies ABBREVIATIONS HLA human leukocyte antigen NJ neighbor joining PCR polymerase chain reaction SBT sequence-based typing EDTA ethylenediamine tetraacetic acid IHWG International Histocompatability Working Group EM expectation-maximaization INTRODUCTION The Jing ethnic minority, 1 of 55 official ethnic minor- ities of China, is a very small ethnic minority with only 18,700 people. They inhabit primarily in the compact communities of three islands of Wanwei, Wutou, and Shanxin in the Fangcheng Multiethnic Autonomous County, the Guangxi Zhuang Autonomous Region, near the Sino-Vietnam border. According to the historic ev- idences, the ancestors of the Jings emigrated from Viet- nam to China in the early 16th century and settled on the three uninhabited islands [1]. Human leukocyte antigens (HLA), the major histo- compatibility complex in human, was the most polymor- phic genetic system of mankind, and played a key role in the immune response by presenting peptides to T lym- phocytes. The extensive allelic polymorphism and the From the Department of Biochemistry (J.-h.L., Z.L., F.L., Y.F., X.F., X.L., H.Z., A.X.), Key Laboratory of Genetic Engineering of MOE, College of Life Sciences, Sun Yatsen (Zhongshan) University, Guangzhou, Guang- dong; Centers for Disease Control and Prevention of Dongxing City (S.L.), Dongxing, Guangxi; and Hospital of Jiangping Town (J.-m.L.), Dongxing, Guangxi, P.R. China. Address reprint requests to: Dr. A. Xu, Department of Biochemistry, College of Life Sciences, Sun Yat-sen (Zhongshan) University, Guangzhou 510275, Peoples Republic of China; Tel: +86 (20) 84113655; Fax: +86 (20) 84038377; E-mail: ls36@zsu.edu.cn. Received November 12, 2002; revised April 23, 2003; accepted May 15, 2003. Human Immunology 64, 830 – 834 (2003) © American Society for Histocompatibility and Immunogenetics, 2003 0198-8859/03/$–see front matter Published by Elsevier Inc. doi:10.1016/S0198-8859(03)00128-9