细胞毒性T淋巴细胞相关抗原-4基因与中国北方汉族Graves病连锁关系研究  

A linkage study of cytotoxic T lymphocyte-associated antigen 4 gene and Graves′disease in northern Chinese Han ethnic

作　　者：金迎[1] 贲松涛[2] 滕卫平[1] 张静 熊晓艳 赵萸 黄薇 

机构地区：[1]中国医科大学附属第一医院内分泌科,沈阳110001 [2]中国医科大学公共卫生学院,沈阳110001 [3]国家人类基因组南方研究中心

出　　处：《中华内科杂志》2002年第12期809-812,共4页Chinese Journal of Internal Medicine

基　　金：国家自然科学基金资助项目 (39970 35 0 );国家自然科学基金重大项目资助(398962 0 0 );国家基础研究重大项目资助(G19980 5 10 0 2 );美国中华医学基金会资助项目(98 688IITD)

摘　　要：目的　确定位于染色体 2q3 1 q3 3区的细胞毒性T淋巴细胞相关抗原 4(CTLA 4)基因是否是中国北方汉族Graves病 (GD)的主要易感基因。方法　采用 5个高度多态且覆盖整个染色体2q3 1 q3 3区的微卫星标记筛查 5 4个 (3 2 2人 )中国北方汉族GD多发家系。分别计算疾病在呈显性及隐性遗传的各外显率下 ,各微卫星的两点及多点Lod值 ,并计算多点非参数连锁值。结果　在每种遗传模式下 ,各微卫星的两点Lod值 (与疾病基因位点的重组率为 0时 )及多点Lod值均小于 - 2。非参数连锁值均无显著的统计学意义 (P >0 0 5 )。结论　染色体 2q3 1 q3 3区不存在与中国北方汉族GD相连锁的基因位点。CTLAObjective To determine if the cytotoxic T lymphocyte associated antigen 4 (CTLA 4) gene, which is located on chromosome 2q31 q33, is the major susceptibility gene for Graves′ disease (GD) of northern Chinese Han nationality Methods Five highly polymorphic microsatellite markers spanning the entire region of chromosome 2q31 q33 were employed to screen 54 families with multiple incidences of GD (322 individuals) of northern Chinese Han nationality Tow point and multi point Lod scores were calculated under different levels of penetrance, assuming both dominant and recessive models Multipoint nonparametric linkage (NPL) scores were also calculated Results Two point Lod scores (θ=0) and multipoint Lod scores of less than -2 were observed for all the markers tested, at all levels of penetrance, in both the dominant and recessive models of inheritance P values of greater than 0 05 were observed for all the multipoint NPL scores obtained Conclusion We obtained evidence against the linkage of GD with chromosome 2q31 q33, thus we are of the opinion that CTLA 4 gene is not the major susceptibility locus for Graves′ disease of northern Chinese Han nationality

关 键 词：中国 北方汉族 GRAVES病 格雷夫斯病 T淋巴细胞 细胞毒性 基因 

分 类 号：R581.1[医药卫生—内分泌]