多座位标记单倍型与强直性脊柱炎的关联研究  

The relationship between haplotypes of multilocus markers and ankylosing spondylitis

作　　者：顾鸣敏[1] 袁文涛 杨珏琴[3] 张静 熊晓燕 姚芳娟[3] 陆振虞[1] 王铸钢[1] 黄薇 范丽安[3] 

机构地区：[1]上海第二医科大学医学遗传学教研室,200025 [2]国家人类基因组南方研究中心 [3]上海第二医科大学免疫学教研室暨上海市免疫学研究所,200025

出　　处：《中华医学遗传学杂志》2004年第4期312-315,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金 (39970 742 );国家杰出青年科学基金项目 (3992 50 2 3);国家自然科学基金重大项目 (3999342 0 )~~

摘　　要：目的　研究 5个强直性脊柱炎 (ankylosingspondylitis ,AS)家系在HLA附近的多座位标记单倍型与AS之间的关联关系。方法　选择位于HLA区域D6S2 76两侧的 11个微卫星标记作精细连锁分析 ,采用Cyrillic软件作单倍型分析。 结果　精细连锁分析显示D6S2 76的最大Lod值达 3 .882 1,位于该标记两侧的D6S1691和D6S1618的Lod值均大于 1.5 0 ;单倍型分析显示 5个家系的重组与交换频率达14 0 % ,其中D6S1691、D6S2 76、D6S1618与AS紧密关联。结论　D6S1691 D6S2 76 D6S1618区域可能存在AS的易感基因位点 ,家系中与AS紧密关联的单倍型可作为症状前诊断的重要依据。Objective To investigate the relationship between haplotypes of multilocus markers and ankylosing spondylitis (AS). Methods Five families with AS were recruited from Shanghai area. Eleven microsatellite markers around D6S276 were analyzed by Linkage package and by Cyrillic package. Results Fine linkage analysis showed the significant Lod score values with D6S276 was 3.8821, Lod score values with D6S1691 and D6S1618 near D6S276 were larger than 1.5. The crossover value in 5 pedigrees was 14%. The haplotype analysis showed that the regions between D6S1691 and D6S1618 were associated with AS. Conclusion The regions of D6S1691-D6S276-D6S1618 may harbor a susceptible gene of AS. The specific haplotypes of different pedigrees may play an important role in the presymptomatic diagnosis for AS.

关 键 词：强直性脊柱炎 家系 单倍型 关联研究 连锁分析 OD值 微卫星标记 

分 类 号：R593.26[医药卫生—内科学]