强直性脊柱炎及HLA-B27的遗传倾向研究  

STUDY ON THE HEREDITY RELATIONSHIP BETWEEN ANKYLOSING SPONDYLITIS AND HLA-B27

作　　者：王小敏[1] 赵英[2] 蔡俊宏[2] 吴艳[2] 符生苗[2] 

机构地区：[1]海南海口市中医院检验科,海口570203 [2]海南省人民医院医学研究中心

出　　处：《现代预防医学》2009年第22期4314-4316,4319,共4页Modern Preventive Medicine

基　　金：海南省卫生厅科研项目(琼卫2005-90号)

摘　　要：[目的]通过检测海南籍强直性脊柱炎(AS)及亲属的HLA-B27的表型、基因型及亚型的分布情况,了解海南籍HLA-B27和AS的遗传倾向及发病情况,指导临床治疗,预防AS的发病。[方法]HLA-B27表型检测采用血清学技术,HLA-B27基因型和基因分型检测均采用序列特异性引物聚合酶链式反应(PCR-SSR)技术。[结果]6例海南籍的AS患者及家族成员共86例中B27阳性者患AS的概率为36.7%,其中男女比例约为7.6︰1;有AS相关症状者的概率为36.7%,男女比例为1︰5.9。43个HLA-B27阳性家庭中一级亲属AS患病率为30.26%,HLA-B27阳性患AS的比率为47.92%,其中男性为68.97%,女性为15.79%,男女比例为1︰4.4。无论是父亲还是母亲HLA-B27阳性,其子女HLA-B27的阳性率基本相近。AS患者中HLA-B27阳性者占100%,HLA-B27表型和基因型基本相符,HLA-B27基因分型结果均为HLA-B2704型。[结论]海南地区AS发病率和HLA-B27阳性率都较其他地区高,具有很强的家族遗传倾向,AS发病率男性较女性高发,有AS相关症状者女性高于男性。HLA-B27基因亚型为HLA-B2704。[Objective] To detect the HLA-B27 phenotype,genotype and subtypes in the patients of ankylosing spondylitis and their family,understand the heredity relationship and incidence between HLA-B27 and AS,guide the clinical therapy and prevent AS.[Methods] The HLA-B27 phenotype was detected by serology technology,the genotype of HLA-B27 was detected by PCR-SSR.[Results] The positive ratio of HLA-B27 gene in AS was 36.7%.Male to female ratio was 7.6︰1 a-mong the total.The ratio of people with AS symptom was 36.6%,and male to female ratio was 1︰5.9.The morbidity ratio of AS in the first degree relative of 43 HLA-B27 gene positive was 30.26%,and the morbidity ratio of AS in positive HLA-B27 patients was 47.92%,it was 68.97% among male,it was 15.79% among female.The male to female ratio was 1︰4.4.No matter father or mother in the first degree relative was positive AS,the positive rate of their children was close to each other.The ratio of HLA-B27 positive in AS patients was 100%.The phenotype and genotype of HLA-B27 were conformity.The result of genotyping of HLA-B27 was HLA-B2704.[Conclusion] In Hainan Area people,the morbidity ratio of AS and the positive rate of HLA-B27 gene were higher than other area,and had strong heredity.The male had higher morbidity ratio of AS than the female,but female was higher than male in those who have AS symptom and whose HLA-B27 gene subtypes was HLA-B2704.

关 键 词：强直性脊柱炎 HLA-B27 表型 基因分型 

分 类 号：R593.23[医药卫生—内科学]