汉族人强直性脊柱炎致病基因多态性的研究

Polymorphism of virulence gene of ankylosing spondylitis in Han nationality

目的:①探讨汉族人HLA-B27亚型基因结构特点。②合成HLA-B27基因检测试剂。方法:采用聚合酶链式反应、顺序特异性引物法和核苷酸探针杂交技术。对120例健康人和46例强直性脊柱炎患者的HLA-B27基因进行了分析。结果:采用本项目合成的HLA-B27DNA检测试剂,在120例正常人中进行了检测,有6例出现HLA-B27扩增带,HLA-B27基因携带者占5%;而65例疑为AS患者中有46例出现HLA-B27扩增带,占70.3%,(RR=46,P<0.01);制备的HLA-B27基因检测试剂,具有快速简便、准确性高和特异性强等优点。结论:①在中国汉族人中至少存在2种HLA-B27亚型基因,分别是B2704和B2705,同时B2704和B2705也是汉族人HLA-B27主要的亚型;HLA-B27的B2704和B2705是强直性脊柱炎的主要致病基因。②DNA分型检测HLA-B27基因完全可以取代目前的血清学方法,具有很大的应用价值。

AIM:To explore the features of subtype gene structure of homologous leucocytic antigen B27(HLA B27) in Han nationality and synthysize HLA B27 test reagents. METHODS:HLA B27 gene was analyzed in 120 healthy persons and 46 ankylosing spondylitis patients with polymerase chain reaction(PCR),sequence specific primer(SSP) and nucleic acid probe hybridization techniques. RESULTS:Synthesized HLA B27 DNA test reagents were used in 120 healthy persons.HLA B27 amplifying bands appeared in six subjects, and the positive rate was 5%. However, among the 65 who were not confirmed as AS patients, 46 subjects presented the syndrome as HLA B27 amplifying bands, and the positive rate was 70.3%(RR=46,P< 0.01).The synthesized HLA B27 gene test reagents were rapid and simple,with high verocity and specificity. CONCLUSION:At least two subtype genes,B2704 and B2705,exist in Chinese Han people.Moreover,the two genes are the main subtypes of HLA B27,and the main reason for ankylosing spondylitis.DNA typing test of HLA B27 gene can completely replace the serum method,and has great application value.