CAJ | 학술논문

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。
목적：탐토세포독성T림파세포상관항원4( CTLA-4)기인외현자1제49위점A/G다태성여Graves병（GD）적상관성。방법운용다취매련반응한제성편단장도다태성( PCR-RFLP)방법대99례GD환자화107례건강대조자CTLA-4기인외현자1제49위점적기인형진행검측。결과 GD환자피연구99례세포독성T림파세포상관항원4기인외현자1적49위AA순합자위14.14%，AG잡합자위39.39%，GG순합자위46.47%，107례적건강대조자AA순합자위25.23%，AG잡합자위53.27%，GG순합자위21.50%。 GD환자여대조자GG순합자지간유명현적통계학차이(P<0.01)；GD환자세포독성T림파세포상관항원4기인제1외현자제49위A기인화G기인빈솔분별위33.84%화66.16%，G기인조빈솔명현고우A기인(P<0.05)；건강대조자A기인조빈솔화G기인조빈솔지간비교차이무통계학차이(P>0.05)；각조성별지간비교야무현저성차이(P>0.05)。결론강서지구한족인군CTLA-4기인외현자1제49위점A/G다태성여GD발생존재정상관성。
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 (P<0.01);Gene frequency in patients with GD the 49 site of A/G polymorphism of CTLA-4 gene exon 1 for was 33.84%,the gene frequency of G was 66.16%,Gene frequency was significantly higher than that of A gene of health (P<0.05);there was no significant difference between each gender (P>0.05). Conclusion The 49 site of A/G polymorphism of CTLA-4 gene exon 1 in Jiangxi Han population and GD have positive correla-tion.