强直性脊柱炎易感基因定位的比较研究  

A Comparison analysis of the susceptible gene loci found in the ankylosing spondylitis

作　　者：顾鸣敏[1] 袁文涛 杨珏琴[3] 范丽安[3] 黄薇 王铸钢[1] 

机构地区：[1]上海第二医科大学医学遗传学教研室,上海200025 [2]国家人类基因组南方研究中心遗传学部,上海201202 [3]上海市免疫学研究所免疫遗传室,上海200025

出　　处：《诊断学理论与实践》2004年第5期361-364,共4页Journal of Diagnostics Concepts & Practice

基　　金：国家自然科学基金项目(39970742);国家杰出青年科学基金项目(39925023);国家自然科学基金重大项目(39993420);国家重点基础研究发展规划项目(G1998051019)

摘　　要：目的:比较分析中国人群与欧美人群在强直性脊柱炎(AS)易感基因定位方面的异同点。方法:采用全基因组扫描法对中国9个AS家系101份DNA样本进行基因分型和连锁分析;采用比较分析法对国外3个课题组的基因定位数据作统计学处理。结果:两群均在HLA区域尤其是D6S276附近存在连锁遗传标记;除HLA区域外,中国人群在D3S1292(3q)、D4S1535(4q)和D18S64(18q)处可能存在与AS相连锁的标记,而欧美人群在D1S255(1p)、D3S1300(3p)、D6S441(6q)、D9S1862(9q)、D11S4094(11q)、D16S515(16q)和D19S420(19q)等处存在与AS相连锁的标记。结论:中国人群与欧美人群在HLA区域肯定存在1个或1个以上易感基因或标记;此外,不同人群在非HLA区域的不同部位还存在多个AS易感基因或标记。总之,多个易感基因的协同作用是AS发生的遗传基础。Objective To compare the similarities and differences of the susceptible gene loci found in the ankylosing spondylitis (AS) between the Chinese and the Caucasian. Methods Nine families with AS were recruited from Shanghai area. By the methods of genotyping and linkage analysis, a genomewide scan was undertaken. The results of the susceptible gene loci among our group and 3 oversea groups were compared. Results The positive genetic markers lied at the HLA region around D6S276 both in the Chinese and in the Caucasian. Besides the HLA region, D3S1292 (3q), D4S1535 (4q) and D18S64 (18q) were linked with AS in the Chinese, while D1S255 (1p), D3S1300 (3p), D6S441 (6q), D9S1862 (9q), D11S4094 (11q), D16S515 (16q) and D19S420 (19q) were linked with AS in the Caucasian. Conclusions At least one susceptible genes or markers at the HLA region are confirmed both in the Chinese and in the Caucasian. In addition, more susceptible genes or markers may exist in the different loci at the non-HLA region among the different populations. Therefore, several susceptible genes play important role in AS.

关 键 词：易感基因 强直性脊柱炎 中国人群 HLA 标记 不同人群 统计学处理 定位 异同点 课题组 

分 类 号：R593.23[医药卫生—内科学] R587.1[医药卫生—临床医学]