摘要
目的研究低分子量多肽（ｌｏｗｍｏｌｅｃｕｌａｒｗｅｉｇｈｔｐｅｐｔｉｄｅ，ＬＭＰ）基因多态性与强直性脊椎炎（ａｎｋｙｌｏｓｉｎｇｓｐｏｎｄｙｌｉｔｉｓ，ＡＳ）表型的关系。方法收集各种类型ＡＳ和单纯虹膜炎（Ａｃｕｔｅａｎｔｅｒｉｏｒｕｖｅｉｔｉｓ，ＡＡＵ）血标本１１８例。应用聚合酶链反应技术对正常人和患者进行ＨＬＡ－Ｂ２７检测以及ＬＭＰ２和ＬＭＰ７扩增，以ＣｆｏⅠ进行限制性酶切图谱分析。结果ＡＳ有ＡＡＵ病史患者ＬＭＰ２基因ＢＢ型频率较正常人以及ＡＳ患者明显增高（Ｐ＜０．０５），ＯＲ为３．７１。少年型ＡＳ与成年型ＡＳ以及单纯中心型ＡＳ与伴有外周关节炎（ｐｅｒｉｐｈｅｒａｌａｒｔｈｒｉｔｉｓ，ＰＡ）的ＡＳ之间ＬＭＰ２基因型没有明显差异（Ｐ＞０．０５）。ＰＡ＋／ＡＡＵ＋与ＰＡ＋／ＡＡＵ－患者间存在显著差异（Ｐ＜０．０５），ＯＲ值为４．６３６。ＡＡＵ患者与正常人存在显著差异（Ｐ＜０．０５），ＯＲ值为５．８３。ＬＭＰ７基因多态性无明显差异。结论ＬＭＰ２基因多态性与有ＡＡＵ病史的ＡＳ以及单纯ＡＡＵ发病存在明显相关，而与ＡＳ发病年龄以及关节类型没有明显关系。
Objective To evaluate the relationship of the polymorphism of LMP2 and LMP7 genes and the phenotype of patients with ankylosing spondylitis(AS). Methods One hundred and eighteen blood samples were collected from patients with AS and acute anterior uveitis(AAU). HLAB27 typing was performed and LMP2 and LMP7 amplified fragment length polymorphisms were determined after PCR and digestion with Cfo restriction enzyme in the study. Results There was a significantly increased LMP2 BB genotypic frequency in patients with AS+AAU(86.9%) and AAU(87%), compared with controls(533%) and AS patients(63.1%) (P<0.05); the odds ratio(OR) relating LMP2 BB and AAU was 583, and the OR for AS+AAU was 3.71. No difference was found between adult AS and junior AS and between AS patients with and without extraspinal arthritis. No difference was found in LMP7 genotype. Conclusion The polymorphism of LMP2 gene is strongly associated with the development of AAU in AS patients and in uncomplicated AAU patients, but not with the age at onset and the type of joints affected.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1999年第4期242-245,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
低分子量多肽
强直性脊柱炎
基因多态性
Low molecular weight peptide genePolymorphismAnkylosing spondylitisAcute anterior uveitisPhenotype
