DR2/DQw1 inheritance and haplotype sharing in affected siblings from multiple sclerosis families.
DR2/DQw1 inheritance and haplotype sharing in affected siblings from multiple sclerosis families.
复制标题
来自多发性硬化症家族的受影响兄弟姐妹的 DR2/DQw1 遗传和单倍型共享。
作者：
R. Voskuhl;A. Goldstein;T. Simonis;R. Davey;H. McFarland
虽然人类白细胞抗原DR 2/DQw 1等位基因与多发性硬化症有关，但多发性硬化症家族中DR 2/DQw 1遗传的研究产生了相互矛盾的结果。我们在“高发”家庭中研究了这个问题，定义为兄弟姐妹中超过50%受到影响的家庭。DR 2/DQw 1等位基因频率显著增加，特别是在母亲和患病同胞中（p < 0.0001）。DR 2/DQw 1从父母双方的传播在受影响的后代中更频繁（p = 0.005）。虽然在大多数家庭中缺乏疾病与特定亲本等位基因分离的证据，但患病同胞对中单倍型共享的频率较高（p < 0.01）。
Although the human leukocyte antigen DR2/DQw1 allele has been associated with multiple sclerosis, studies of DR2/DQw1 inheritance in multiple sclerosis multiplex families have yielded conflicting results. We examined this question in "high-incidence" families, defined as families with more than 50% of siblings affected. DR2/DQw1 allele frequencies were significantly increased, particularly in mothers and affected siblings (p < 0.0001). The transmission of DR2/DQw1 from both parents was more frequent in affected offspring (p = 0.005). While evidence for segregation of disease with a particular parental allele was lacking in most families, the frequency of haplotype sharing was higher in affected sib pairs (p < 0.01).