江西地区汉族人群CTLA-4基因外显子1第49位点A/G多态性与Graves病相关性

Study of the 49 site of A/G polymorphism of CTLA-4 gene exon 1 in Graves diseases in Jiangxi

目的探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因外显子1第49位点A/G多态性与Graves病(GD)的相关性。方法运用多聚酶链反应限制性片段长度多态性(PCR-RFLP)方法对99例GD患者和107例健康对照者CTLA-4基因外显子1第49位点的基因型进行检测。结果 GD患者被研究99例细胞毒性T淋巴细胞相关抗原4基因外显子1的49位AA纯合子为14.14%,AG杂合子为39.39%,GG纯合子为46.47%,107例的健康对照者AA纯合子为25.23%,AG杂合子为53.27%,GG纯合子为21.50%。GD患者与对照者GG纯合子之间有明显的统计学差异(P<0.01);GD患者细胞毒性T淋巴细胞相关抗原4基因第1外显子第49位A基因和G基因频率分别为33.84%和66.16%,G基因组频率明显高于A基因(P<0.05);健康对照者A基因组频率和G基因组频率之间比较差异无统计学差异(P>0.05);各组性别之间比较也无显著性差异(P>0.05)。结论江西地区汉族人群CTLA-4基因外显子1第49位点A/G多态性与GD发生存在正相关性。

Objective To investigate the 49 site of A/G polymorphism of cytotoxic T lymphocyte associated antigen 4 （CTLA-4） gene exon 1 and Graves＇s disease. Methods Using polymerase chain reaction restriction Fragment length polymorphism （PCR-RFLP） methods in 99 patients with GD and 107 healthy controls Detected the 49 site of A/G polymorphism of CTLA-4 gene exon 1. Results Patients with GD the 49 site of A/G polymorphism of CTLA-4 gene exon 1 AA homozygotes is 14.14%,the AG het-erozygotes was 39.39%,GG homozygotes is 46.47%,healthy controls was 25.23%,53.27% and 21.50% respectively,GD patients and healthy controls are statistically significant between GG homozygote differences （P0.05）. Conclusion The 49 site of A/G polymorphism of CTLA-4 gene exon 1 in Jiangxi Han population and GD have positive correla-tion.