摘要
目的 调查江浙沪汉族人群 HL A- DRB1基因座的遗传多态性 ,分析不同人群 H L A- DRB1基因频率分布特征。方法 利用聚合酶链反应 -序列特异寡核苷酸探针反向杂交和聚合酶链反应 -序列特异引物技术对江浙沪地区 6 2 6名健康无关汉族人进行 H L A- DRB1基因分型 ,可检出 DRB1* 0 10 1- 10 0 1,DRB3,DRB4 ,DRB5等等位基因 ,计算 HL A- DRB1等位基因频率并与不同人群 H L A- DRB1基因的多态性进行比较。结果 在江浙沪汉族人群中检出 HL A- DRB1* 0 10 1、 0 30 1、 0 70 1、0 90 12、10 0 1、12 0 1、12 0 2、130 1/ 0 2、130 3/ 0 4、14 0 1/ 0 4 / 0 5、14 0 2 / 0 3/ 130 5、15 0 1/ 0 2、16 0 2 1以及 0 4 xx、0 8xx等等位基因 ,其中 DRB1*0 90 12 (17.97% )、0 4 xx(12 .5 3% )、12 0 2 (11.4 2 % )及 15 0 1/ 0 2 (11.0 2 % )基因频率分布较高。江浙沪汉族人群无偏倚期望杂合性为 0 .96 34,多态性信息含量为 0 .90 2 4。结论 江浙沪汉族人群 H L A- DRB1基因具有中国汉族人群共有的遗传特征 ,但也有其自身的分布特点 ,频率分布介于南、北汉族之间。在所比较的不同人群中中国汉族人群 H L A- DRB1多态性较为丰富。
Objective To investigate the genetic polymorphism of HLA-DRB1 locus in Jiangsu-Zhejiang-Shanghai Han population and analyze the characteristic of the allele frequency distribution in comparison with that of other populations. Methods The technique of polymerase chain reaction-sequence specific primers(PCR-SSP) and reverse polymerase chain reaction-sequence specific oligonucleo-tide probe (PCR-SSOP) was adopted in genotyping a sample of 626 unrelated healthy individuals collected from a Chinese Han population in Jiangsu-Zhejiang-Shanghai area. HLA-DRB1*0101-1001, DRB3, DRB4 and DRB5 were detected. The allele frequency of HLA-DRB1 was calculated, and the allele frequency distribution of HLA-DRB1 in this population was compared with the results from other populations.Results HLA-DRB1*0101, 0301, 0701, 09012, 1001, 1201, 1202, 1301/02,1303/04,1401/04/05,1402/03/1305,1501/02, 16021 and 04xx, 08xx were detected in Jiangsu-Zhejiang-Shanghai Han population. The common HLA-DRB1*allele included 09012(17.97%), 04xx(12.53%), 1202(11.42%) and 1501/02(11.02%). The polymorphism information content is 0.9024, and expected heterozygosity is 0.9634 in Jiangsu-Zhejiang-Shanghai Han population.Conclusion The HLA-DRB1 distribution of Jiangsu-Zhejiang-Shanghai Han population shares some genetic characteristic with other Han populations, but it exhibits its own characteristic, suggesting the intermediate state of this population between the southern and northern Han populations. The polymorphism of HLA-DRB1 of Jiangsu-Zhejiang-Shanghai Han population is the most abundant one in this study.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2003年第4期365-367,共3页
Chinese Journal of Medical Genetics
基金
上海市卫生局资助项目 (0 1 4 4 4 )~~
