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家族性多发性硬化症:临床、组织相容性及病毒血清学研究。

Familial multiple sclerosis: clinical, histocompatibility, and viral serological studies.

作者信息

Eldridge R, McFarland H, Sever J, Sadowsky D, Krebs H

出版信息

Ann Neurol. 1978 Jan;3(1):72-80. doi: 10.1002/ana.410030111.

DOI:10.1002/ana.410030111
PMID:418737
Abstract

Evaluation of presumed "multiple sclerosis families" and comparison with recently reported families has led us to the following observations: (1) Seven of our original fourteen presumptive multiple sclerosis families had to be eliminated after personal clinical evaluation of family members failed to confirm the diagnosis in a second close relative. (2) No segregation of HLA type was noted between affected and unaffected individuals in our seven bona fide multiple sclerosis families, and no consistent segregation was noted in the twenty-eight families reported elsewhere. This supports other genetic evidence that there is not a single, major gene mapping in the HLA complex which predisposes to multiple sclerosis. (3) The DW2 antigen was increased in frequency among affected members of our families, and the A3 B7 haplotype was more frequent among affected members of other families reported. But unaffected members also tended to have an increased frequency of these same antigens. (4) No relationship was noted between HLA type and antimeasles antibody titer within our families.

摘要

对假定的“多发性硬化症家族”进行评估并与最近报道的家族进行比较后,我们得出了以下观察结果:(1) 在对家族成员进行个人临床评估后,我们最初的14个假定多发性硬化症家族中有7个因未能在第二位近亲中确诊而被排除。(2) 在我们7个真正的多发性硬化症家族中,未发现患病个体与未患病个体之间存在HLA类型的分离,在其他地方报道的28个家族中也未发现一致的分离现象。这支持了其他遗传证据,即HLA复合体中不存在单一的主要基因图谱易导致多发性硬化症。(3) 我们家族中患病成员的DW2抗原频率增加,在其他报道的家族中,患病成员中A3 B7单倍型更为常见。但未患病成员也倾向于有这些相同抗原的频率增加。(4) 在我们家族中,未发现HLA类型与抗麻疹抗体滴度之间存在关联。

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Familial multiple sclerosis: clinical, histocompatibility, and viral serological studies.家族性多发性硬化症:临床、组织相容性及病毒血清学研究。
Ann Neurol. 1978 Jan;3(1):72-80. doi: 10.1002/ana.410030111.
2
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[HLA and familial multiple sclerosis].[人类白细胞抗原与家族性多发性硬化症]
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[Histocompatibility antigens in multiple sclerosis patients].[多发性硬化症患者的组织相容性抗原]
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[Study of 39 cases of multiple sclerosis (MS) including 2 familial cases. Leukocyte migration inhibition test in the presence of measles antigen with and without levamisole. HL-A typing (SD)].对39例多发性硬化症(MS)患者的研究,其中包括2例家族性病例。在有和没有左旋咪唑存在的情况下,进行麻疹抗原存在时的白细胞迁移抑制试验。HL-A分型(SD)。
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Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex.多发性硬化易感性中的表观遗传学:跨代风险差异定位于主要组织相容性复合体。
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引用本文的文献

1
Multiple sclerosis: it epidemiological, genetic, and health care impact.多发性硬化症:其流行病学、遗传学及医疗保健影响。
J Epidemiol Community Health. 1995 Dec;49(6):563-9. doi: 10.1136/jech.49.6.563.
2
Epidemiologic evidence for multiple sclerosis as an infection.多发性硬化症作为一种感染性疾病的流行病学证据。
Clin Microbiol Rev. 1993 Oct;6(4):382-427. doi: 10.1128/CMR.6.4.382.
3
HLA and the inheritance of multiple sclerosis: linkage analysis of 72 pedigrees.人类白细胞抗原与多发性硬化症的遗传:72个家系的连锁分析
Am J Hum Genet. 1980 Jan;32(1):103-11.
4
HLA and disease: predictions for HLA haplotype sharing in families.人类白细胞抗原与疾病:家庭中人类白细胞抗原单倍型共享的预测
Am J Hum Genet. 1981 Sep;33(5):776-84.
5
Some epistatic two-locus models of disease. I. Relative risks and identity-by-descent distributions in affected sib pairs.一些疾病的上位性双基因座模型。I. 患病同胞对中的相对风险和同源性分布
Am J Hum Genet. 1981 May;33(3):381-95.
6
Family studies in multiple sclerosis: HLA haplotypes of affected sib-pairs.多发性硬化症的家系研究:患病同胞对的HLA单倍型
Eur Arch Psychiatry Neurol Sci. 1984;234(1):5-7. doi: 10.1007/BF00432876.
7
A comparison of composition and fluidity of multiple sclerosis and normal myelin.多发性硬化症与正常髓磷脂的成分及流动性比较。
Neurochem Res. 1980 Mar;5(3):319-36. doi: 10.1007/BF00964620.
8
HLA-linked and unlinked determinants of multiple sclerosis.多发性硬化症的HLA连锁和非连锁决定因素。
Immunogenetics. 1982;15(5):509-17. doi: 10.1007/BF00345910.
9
DNA length polymorphism located 5' to the human myelin basic protein gene.位于人类髓鞘碱性蛋白基因5'端的DNA长度多态性。
Am J Hum Genet. 1987 May;40(5):387-400.
10
Identification of a locus on mouse chromosome 3 involved in differential susceptibility to Theiler's murine encephalomyelitis virus-induced demyelinating disease.鉴定小鼠3号染色体上一个与对泰勒氏鼠脑脊髓炎病毒诱导的脱髓鞘疾病易感性差异相关的基因座。
J Virol. 1990 Feb;64(2):686-90. doi: 10.1128/JVI.64.2.686-690.1990.