Jin Ying, Hu Fengnan, Teng Weiping, Ben Songtao, Zhang Jing, Xiong Xiaoyan, Huang Wei
Department of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang 110001, China.
Zhonghua Yi Xue Za Zhi. 2002 Sep 25;82(18):1242-4.
To determine if the human major histocompatibility complex (MHC) region located on chromosome 6 p21 is a major susceptibility locus for Graves' disease (GD) among the Hans in North of China.
Four highly polymorphic microsatellite markers spanning the entire region of chromosome 6 p21 were employed to screen the DNA from blood samples of 54 Han multiplex families with GD (322 individuals) in Liaoning Province, northeast China. 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.
The two-point Lod scores (theta = 0) and multipoint Lod scores for the 4 microsatellites were all less than -2 for all the markers tested, at all levels of penetrance, and in both the dominant and recessive modes of inheritance. No family showed a two-point Lod score or a multipoint Lod score of 1.0 or even larger under the assumed inheritance models. The maximum multipoint Lod score was 0.55 under the assumption of genetic heterogeneity, with the proportion of linked families of 29%. P values of greater than 0.05 were observed for all the multipoint NPL scores obtained.
No locus linked with GD among the Hans in North of China exists on chromosome 6 p21. Human MHC region is not a major susceptibility locus for northern Chinese Han Graves' disease.
确定位于6号染色体p21的人类主要组织相容性复合体（MHC）区域是否为中国北方汉族人群中格雷夫斯病（GD）的主要易感位点。
采用4个跨越6号染色体p21整个区域的高度多态性微卫星标记，对中国东北辽宁省54个患GD的汉族多重家庭（322人）血样中的DNA进行筛查。在不同外显率水平下，假设显性和隐性模型，计算两点和多点Lod分数。还计算了多点非参数连锁（NPL）分数。
在所有检测的标记物中，在所有外显率水平以及显性和隐性遗传模式下，4个微卫星的两点Lod分数（θ = 0）和多点Lod分数均小于-2。在假定的遗传模型下，没有一个家庭的两点Lod分数或多点Lod分数达到1.0或更高。在遗传异质性假设下，最大多点Lod分数为0.55，连锁家庭比例为29%。所有获得的多点NPL分数的P值均大于0.05。
中国北方汉族人群中，6号染色体p21不存在与GD相关的位点。人类MHC区域不是中国北方汉族格雷夫斯病的主要易感位点。
