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多发性硬化症与组织相容性(HLA)单倍型的遗传分离

Genetic segregation of multiple sclerosis and histocompatibility (HLA) haplotypes.

作者信息

Alter M, Quevedo J

出版信息

J Neurol. 1979;222(2):67-74. doi: 10.1007/BF00313000.

Abstract

The possibility that a gene determining susceptibility to multiple sclerosis (MSS) may be closely linked to the major histocompatibility locus (HLA) is suggested by observation of a loose association between multiple sclerosis (MS) and certain HLA determinants. In the present study, the possible association was analyzed by studying the segregation of MS and the HLA haplotypes in families with more than one case of MS. Analysis of 48 published families revealed that the haplotype shared by those with MS within the family was also shared by those without clinical signs of MS at close to the 50% frequency expected by chance. Thus, we were unable to demonstrate that MS is associated with one HLA defined parental haplotype. We discussed reasons for this apparent failure to demonstrate existence of an MSS gene using available multiplex MS families.

摘要

多发性硬化症(MS)与某些人类白细胞抗原(HLA)决定簇之间存在松散关联,这一观察结果提示,决定多发性硬化症易感性的基因可能与主要组织相容性位点(HLA)紧密连锁。在本研究中,通过研究有不止一例多发性硬化症病例的家庭中MS与HLA单倍型的分离情况,对这种可能的关联进行了分析。对48个已发表的家庭进行分析后发现,家庭中患有MS的个体所共有的单倍型,在无MS临床症状的个体中也有接近50%的频率偶然共享。因此,我们无法证明MS与一种由HLA定义的亲代单倍型相关。我们讨论了使用现有的多发性硬化症多发家庭未能证明存在多发性硬化症易感性(MSS)基因的明显原因。

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