| 主办单位: |
| 中国科学院遗传与发育生物学研究所 |
| 中国遗传学会 |
| 编辑单位: |
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《遗传学报》 编辑部
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| 主 编: 薛勇彪 |
| 主 任: 张颖 |
编委阵容 |
| 审稿专家 |
| 国内刊号： |
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CN 11-5450/R
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| 国际刊号： |
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ISSN 1673-8527
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| 邮发代号： 2-819
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遗传学报 2004.3 Vol 31, No.3 217-220
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| 全基因组扫描寻找强直性脊柱炎的易感基因位点 |
| A Genomewide Scan for the Susceptibility Gene Loci to Ankylosing Spondylitis in Chinese Han Population |
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| 顾鸣敏1，袁文涛3，杨珏琴2,4，张 静3，熊晓燕3，姚芳娟2,4， 陆振虞1，王铸钢1，黄 薇3，①，范丽安2,4，① |
| 1、上海第二军医大学医学遗传学教研室，200025 2、上海第二军医大学免疫学教研室，200025 3、国家人类基因组南方研究中心，上海，201203 4、上海市免疫学研究所，200025 |
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| Key Words： 强直性脊柱炎；全基因组扫描；连锁分析；易感基因位点 |
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Abstract
为了寻找中国人群强直性脊柱炎（ankylosing spondylitis，AS）的易感基因位点，采用全基因组扫描法对9个强直性脊柱炎家系进行基因分型、参数连锁分析和非参数连锁分析。在参数连锁分析中，D6S276位点的最大LOD值为3.8821(θ=0.0)，精细分析显示距D6S276位点附近的D6S1691和D6S1618的LOD值分别为1.5717(θ=0.1)及2.0056(θ=0.1)。在非参数连锁分析中，位于D6S276附近的LOD值高达5.0623，非参数连锁分析的NPL值为3.7561，最小P值为0.000233。上述结果提示，D6S276与强直性脊柱炎之间存在较强的连锁关系，D6S1691-D6S276-D6S1618区域可能存在强直性脊柱炎的易感基因位点。此外，D3S1292、D4S1535和D18S64的最大LOD值分别为1.2768(θ=0.2)、1.1246(θ=0.2)和1.1851(θ=0.1)，提示这些标记与AS之间存在一定的连锁关系。 |
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Abstract
Ankylosing spondylitis (AS) is a common inflammatory arthritis,with a prevalence of 1‰～3‰ in Caucasian and 2‰ in Chinese population.The recognition of the association of HLA-B27 with AS confirmed the importance of heritable factors in the disease.Whole-genome scans showed that some affected-sibling-pair families with AS not only demonstrated strong linkage to the MHC locus,but also identified other regions with suggestive or stronger linkage on chromosomes 1p,2q,9q,10q,16q and 19q.In order to localize the regions containing genes that determine susceptibility to AS in Chinese Han population,a genomewide screen was performed in nine Chinese families with AS,including 29 affected individuals.LINKAGE and GENEHUNTER packages were used for parametric (LOD) and non-parametric (NPL) analysis.The significant two-point LOD score value with D6S276 (at 44.9 cM from the 6p terminal) was 3.8821 in parametric analysis.Fine mapping showed LOD scores of D6S1691(at 42.7 cM) and D6S1618 (at 47.6 cM) around D6S276 were 1.5717 and 2.0056,respectively.Single point NPL score of D6S276,D6S1691 and D6S1618 were 2.6053,2.7490,2.0202,respectively,and minimum P value were 0.0072,0.0047,and 0.0265,respectively.Using multipoint NPL,the maximum LOD score values,NPL score and minimum P value obtained near D6S276 were 5.0623,3.7561,and 0.000233,respectively.As a result,the strong linkage of the D6S276 with AS was found,the region of D6S1691-D6S276-D6S1618 existed a susceptibility gene of AS.In addition,the LOD scores of D3S1292,D4S1535 and D18S64 were larger than 1.0,so they might be some suggestive linkage markers with AS. |
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中国科学院遗传与发育生物学研究所
