中国汉族两群体HLA-DQA1基因的遗传构成及有关15群体DQA1基因频率的比较分析

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。

STUDIES ON THE GENETIC POLYMORPHISM OF HLA-DQA1 LOCUS IN TWO GROUPS OF CHINESE HANS AND COMPREHENSIVE ANALYSIS OF DQA1 GENE FREQUENCIES IN 15 RELATED GROUPS

The DNA polymorphism of HLA-DQA1 locus in Shanghai Chinese Hans (Hans-S,98 cases) and Haerbin Chinese Hans (Hans-H,71 cases) was investigated. All 8 alleles were detected,among which DQAl 0301 was the dominant one while * 0401 was the lowest and even not found in Hans-H. All alleles in both groups confirm to the Hardy-Wein-berg Equilibrium. Comprehensive analyzing of twelve Chinese groups and Japanese,a Caucasoid population and a Negroid population revealed that: firstly,the genetic structure of DQAl of Hans-H and Hans-S were similar to that of those groups except Uygur in Northern Chinese Population (P>0.05) but different from that of those groups in South Chinese Population (P<0.05-0.001) and that of three foreign populations (P<0.001); secondly,comparing of gene frequencies of different race populations, Chinese or Mongoloid and Caucasoid were similr relatively, Mongoloid and Negroid were quite different relatively,and Caucasoid and Negroid were also similar relatively to each other. A discussion was also given.