用PCR-SSP方法研究广西壮族HLA-DQA1和B1基因多态性

目的　检测广西壮族ＨＬＡＤＱＡ１ ，Ｂ１ 基因的多态性。方法　应用ＰＣＲＳＳＰ 方法对１４０ 名健康、无血缘关系广西壮族人的ＨＬＡＤＱＡ１ 和ＤＱＢ１ 进行基因分型。结果　共检出７ 个ＤＱＡ１ 等位基因和１６ 个ＤＱＢ１ 等位基因。在检出的ＤＱＡ１ 等位基因中，０３０１ 的基因频率最高（３５ ％ ） ，０４０１ 的基因频率最低（１ ．１ ％ ） 。在ＤＱＢ１ 等位基因中，０６０１（２２ ．１ ％ ） ，０３０１（２０ ．７ ％ ） ，０５０１（１３ ．９ ％ ） 最为常见。未检出的等位基因包括ＨＬＡＤＱＡ１ ＊ ０２０１ ，０３０２ ，０６０１ ，ＤＱＢ１ ＊ ０６０３ ，０６０５ 和０６０８ 。结论　广西壮族ＨＬＡＤＱＡ１ ，Ｂ１ 基因的多态性不仅有中华民族的特点，而且也有其独特性。

HLA DQA1 and DQB1 genotyping by PCR SSP technique in Guangxi Zhuang Chinese

Objective To investigate the polymorphism of HLA DQA1,B1 gene in the Guangxi Zhuang nationality. Methods We have applied PCR SSP technique to determine the polymorphism of the HLA DQA1 and DQB1 loci of 140 healthy, unrelated Chinese Zhuang individuals in Guangxi Zhuang autonomous region. Results Altogether, 23 alleles were detected, of which DQA1*0301 and DQB1*0601 were the most common alleles with frequencies of 35% and 22.1%, respectively. The other frequent alleles included DQA1*0104, 0102, 0501, DQB1*0301 and 0501 with frequencies of 22.1%, 17.8%, 14.3%, 20.7% and 13.9%, respectively. DQA1*0201, 0302, 0601, DQB1*0603, 0605 and 0608 alleles were not detected in this Chinese Zhuang population. Conclusion The HLA DQA1, B1 gene polymorphism of the Guangxi Zhuang nationality is not only similar to that of the other Chinese nationalities, but also has its own characteristic.