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人类白细胞抗原(HLA)家族研究与多发性硬化症:一个共同的基因,呈显性表达。

HLA family studies and multiple sclerosis: A common gene, dominantly expressed.

作者信息

Stewart G J, McLeod J G, Basten A, Bashir H V

出版信息

Hum Immunol. 1981 Aug;3(1):13-29. doi: 10.1016/0198-8859(81)90040-9.

Abstract

All available Australian families with more than one member suffering multiple sclerosis (MS) were HLA typed. As with all other individual published studies, convincing evidence for linkage between the HLA system and disease was not obtained. An analysis of 100 published affected sib-pairs and 17 cousin-pairs, however, established the existence of an HLA-linked disease susceptibility gene for MS, which is likely to be dominantly expressed. Dominance was also supported by the finding of only three HLA-DR2 (Dw2) homozygous individuals out of 60 unrelated patients which enabled rejection of a recessive gene hypothesis (p less than 0.02). Analysis of the sib-pair data strongly suggested that this MS gene is not rare in the normal population and may be as common as DR2.

摘要

对澳大利亚所有有一名以上家庭成员患多发性硬化症(MS)的家庭进行了HLA分型。与所有其他已发表的个别研究一样,未获得HLA系统与疾病之间存在关联的令人信服的证据。然而,对100对已发表的患病同胞对和17对表亲对进行分析后,确定存在一个与HLA相关的MS疾病易感基因,该基因可能以显性方式表达。在60名无关患者中仅发现3名HLA-DR2(Dw2)纯合个体,这一发现也支持了显性遗传,从而否定了隐性基因假说(p<0.02)。对同胞对数据的分析强烈表明,这种MS基因在正常人群中并不罕见,其常见程度可能与DR2相同。

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