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阿什肯纳兹和伊拉克犹太患者中D6S461标记与多发性硬化症之间的等位基因关联分析。

Analysis of allelic association between D6S461 marker and multiple sclerosis in Ashkenazi and Iraqi Jewish patients.

作者信息

Shinar Y, Pras E, Siev-Ner I, Gamus D, Brautbar C, Israel S, Achiron A

机构信息

Multiple Sclerosis Center, Sheba Medical Center, Tel Hashomer, Israel.

出版信息

J Mol Neurosci. 1998 Dec;11(3):265-9. doi: 10.1385/JMN:11:3:265.

DOI:10.1385/JMN:11:3:265
PMID:10344796
Abstract

A genetic factor contributing to multiple sclerosis (MS) disease risk is evident by the increased prevalence of disease among siblings of probands. A recent genome screen on Canadian sib pairs suffering from MS identified linkage between the genetic marker D6S461 and MS, and showed disequilibrium in transmission of its 260-bp allele from heterozygous parents to affected siblings (Ebers et al., 1996). The present study examined the allelic segregation of this marker among MS patients of Iraqi Jewish and Ashkenazi origin, two homogeneous ethnic groups that differ considerably from Caucasians. The frequency of the 260-bp allele reached 28.3% among Iraqi MS patients (n = 30) and 25.2% among the Ashkenazi patients (n = 121) compared with 19.6% (n = 28) and 21.3% (n = 115) in respective origin-matched controls (for the combined data set, p = 0.18). A secondary analysis of the frequency of the 260-bp allele in clinical subgroups showed a frequency of 38.1% among patients with juvenile MS (i.e., onset by 21 yr of age) of Ashkenazi origin (n = 21, p = 0.019) and 38.8% in the combined pool (n = 27, p = 0.0045). Most (90%) of the juvenile MS patients belonged to the relapsing-remitting subgroup, which itself showed a frequency of 28.5% of the 260-bp allele (n = 121, p = 0.045). The results suggest that the D6S461 region may contain a locus contributing to an early onset of relapsing-remitting MS.

摘要

多发性硬化症(MS)患者的兄弟姐妹中该病患病率增加,这表明存在一种导致MS疾病风险的遗传因素。最近一项针对患有MS的加拿大同胞对的基因组筛查发现,遗传标记D6S461与MS之间存在连锁关系,并显示其260-bp等位基因从杂合子父母向受影响的兄弟姐妹传递时存在不平衡现象(埃伯斯等人,1996年)。本研究调查了该标记在伊拉克犹太人和阿什肯纳兹人后裔的MS患者中的等位基因分离情况,这两个同质种族群体与高加索人有很大差异。伊拉克MS患者(n = 30)中260-bp等位基因的频率达到28.3%,阿什肯纳兹患者(n = 121)中为25.2%,而各自来源匹配的对照组中分别为19.6%(n = 28)和21.3%(n = 115)(合并数据集,p = 0.18)。对临床亚组中260-bp等位基因频率的二次分析显示,阿什肯纳兹人后裔的青少年MS患者(即21岁之前发病)中该频率为38.1%(n = 21,p = 0.019),合并组中为38.8%(n = 27,p = 0.0045)。大多数(90%)青少年MS患者属于复发缓解型亚组,该亚组中260-bp等位基因的频率为28.5%(n = 121,p = 0.045)。结果表明,D6S461区域可能包含一个导致复发缓解型MS早期发病的基因座。

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本文引用的文献

1
Juvenile multiple sclerosis: clinical features and prognostic characteristics.青少年多发性硬化症:临床特征及预后特点
J Pediatr. 1998 Apr;132(4):735-7. doi: 10.1016/s0022-3476(98)70371-3.
2
Effect of age at onset and parental disease status on sibling risks for MS.发病年龄和父母疾病状态对多发性硬化症同胞患病风险的影响。
Neurology. 1998 Mar;50(3):719-23. doi: 10.1212/wnl.50.3.719.
3
Characterization of a rat brain phospholipase D isozyme.大鼠脑磷脂酶D同工酶的特性鉴定
J Biol Chem. 1998 Mar 20;273(12):7044-51. doi: 10.1074/jbc.273.12.7044.
4
Regulation and functions of phospholipase D.磷脂酶D的调控与功能
Biochem Soc Trans. 1997 Nov;25(4):1151-7. doi: 10.1042/bst0251151.
5
Analysis of signal transduction following lymphocyte activation by chemokines.趋化因子激活淋巴细胞后信号转导的分析。
Methods Enzymol. 1997;288:340-61. doi: 10.1016/s0076-6879(97)88023-8.
6
Chromosome 19 single-locus and multilocus haplotype associations with multiple sclerosis. Evidence of a new susceptibility locus in Caucasian and Chinese patients.19号染色体单基因座和多基因座单倍型与多发性硬化症的关联。白种人和中国患者中一个新的易感基因座的证据。
JAMA. 1997 Oct 15;278(15):1256-61.
7
Multiple sclerosis in childhood: clinical features of 149 cases.儿童多发性硬化症:149例临床特征
Mult Scler. 1997 Feb;3(1):43-6. doi: 10.1177/135245859700300105.
8
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2.一个假定的多发性硬化症易感基因座定位于5p14 - p12,该区域与小鼠基因座Eae2同线。
Nat Genet. 1996 Aug;13(4):477-80. doi: 10.1038/ng0896-477.
9
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A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.一项针对多发性硬化症的全基因组筛查突出了主要组织相容性复合体的作用。多发性硬化症遗传学小组。
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