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以HLA基因的PCR-RFLP分型方法研究了哈尔滨地区(Hans-H,71例)和上海地区(Hans-S,98例)两个汉族群体HLA-DQA1座位的遗传多态性。共检出8种等位基因。两群体均以DQA1*0301频率最高,而*0401最低(哈尔滨群体未检出),频率分布符合Hardy-Weinberg平衡。综合分析华人12群体及日本人、高加索人和尼格鲁人等3群体的HLA-DQA1的基因频率显示:卡方总体检验Hans-H及Hans-S与北方华人其它4群体(除维族)间相互无显著差异(P>0.05)),但逐项检验群体间多存在一个至几个基因频率的显著差异(P<0.05～0.001)。总体检验北方华人6群体(包括Hans-S)与南方5群体间均有显著差异(P<0.05～0.001),但满族与南方汉人3群体总体检验无显著差异(P>0.05),而维族与北方华人6群体则有显著差异(P<0.05～0.001)。另外,华人与异族间总体均有非常显著差异(P<0.001),但相对而言,华人(尤其是北方人)与日本人最为接近,华人与高加索人相似性较大,与尼格鲁人差异最大,而高加索人与尼格鲁人差异也较小。并对上述结果进行了讨论。
HLA-DQA1 locus genetic polymorphism was studied in two Chinese Han population (Hans-H, n = 71) and Shanghai (Hans-S, n = 98) by PCR-RFLP typing. A total of eight alleles were detected. Both groups had the highest frequency of DQA1 * 0301 and the lowest * 0401 (Harbin population was not detected), and the frequency distribution was in accordance with Hardy-Weinberg equilibrium. A comprehensive analysis of HLA-DQA1 gene frequencies in 3 Chinese, 12 Chinese, Caucasian, Caucasian and Negro populations showed that Chi-square test was used to test the association between Hans-H and Hans-S and other 4 northern Chinese populations except Uighur (P> 0.05). However, there was a significant difference (P <0.05 ~ 0.001) between one and several gene frequencies in each test population. There was significant difference (P <0.05 ~ 0.001) among the 6 northern Chinese populations (including Hans-S) and 5 southern populations (P <0.05-0.001), but no significant difference was found between the three populations of Manchu and southern Han Chinese (P> 0.05) North China 6 groups were significantly different (P <0.05 ~ 0.001). In addition, there is a significant difference between Chinese and inter-ethnic groups (P <0.001), but relatively speaking, Chinese (especially Northerners) are the closest to Japanese, Chinese are more similar to Caucasians, The difference is greatest, while Caucasians and Nigerians are also less different. The above results are discussed.